لیست آزمایشات

  Tests Methods Sample Amount Temperature Pretest requirements Turnover time  Required documents
1 11q23/13q14 FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents, pathology reports
2 15q22/6q21 FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents, pathology reports
3 19q13/ P53 FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents, pathology reports
4 1q21/SRD(1p36 FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents, pathology reports
5 20q- (PTPRT 20q12) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents, pathology reports
6 5q-/5q31;5q33 FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents, pathology reports
7 6q21/ MYC (8q24) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents, pathology reports
8 α-NAGA deficiency enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc/amniotic fluid/chorionic villi: 5-10 cc 4-24 °C - cv:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
9 α-Mannosidosis enzyme assay serum/amniotic fluid/chorionic vill serum: 2-3 cc/amniotic fluid/chorionic villi: 5-10 cc 4-24 °C - cv:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
10 β-Mannosidosis enzyme assay serum/amniotic fluid/chorionic vill serum: 2-3 cc/amniotic fluid/chorionic villi: 5-10 cc 4-24 °C - cv:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
11 A-CGH Oligo array CGH 8*60 tissue/DNA DNA: 4µg/tissue: 15mg 25± 5 °C - 1 months medical documents
12 Achondroplasia sequencing of hotspots blood EDTA/DNA 5-10 cc 4-24 °C - 2 weeks medical documents- radiography reports
13 ALK (2p23) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
14 ALK/EML FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
15 Alpha Thal-Male/Female sequencing-strip-multiplex-mlpa blood EDTA/DNA 5-10 cc 4-24 °C - 1 months CBC . Electrophoresis
16 Alpha-Beta-XMN  sequencing-multiplex-rflp blood EDTA/DNA 5-10 cc 4-24 °C - 1 months CBC . Electrophoresis
17 Am-Cytogenetics (chromosomal study on amniotic fluid) karyotype analysis amniotic fluid 2-10 cc 4-24 °C - 10-14 days last sonograghy report- double or quad markers reports
18 APRT deficiency enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc/amniotic fluid: 5-10 cc/ chorionic villi 15mg 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
19 Ataxia telangiectasia DNA repair serum/amniotic fluid/chorionic villi serum: 2-3 cc/amniotic fluid: 5-10 cc/ chorionic villi 15mg 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
20 ATM (11q22)/GLI1 (12q13) FISH analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
21 Autopsy  direct examination fetus/newborn - 4-8 °C immediately/in formalin - 3 months medical documents
22 BCL2 (18q21) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
23 BCL2/IGH t(14;18) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
24 BCL6 (3q27) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
25 BCR/ ABL t(9;22) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
26 Beta Thal-Male/Female Arms-mlpa-strip-sequencing-rflp blood EDTA/ DNA 5-10 cc 4-24 °C - 1 month CBC . Electrophoresis
27 BluePrint microarray-based assay fresh and formalin-fixed paraffin embedded breast tumor 10 slides which have 1cm2 of tumoral tissue 4-24 C° - 1 month IHC, pathology report, FISH report
28 Bone Marrow-Cytogenetic  karyotype analysis blood/bone marrow heparinized 5-10 cc 4-8 °C - 2-3 weeks CBC, Bone marrow aspiration, medical history
29 BRAF Mutation (tissue) sequencing-strip tissue/ block 10% tumoral tissue 4-24 °C - 2-3 weeks pathology  and IHC reports for block
30 BRCA I sequencing-mlpa blood EDTA/ DNA 5-10 cc 4-24 °C - 2 months pathology reports IHC
31 BRCA II sequencing-mlpa blood EDTA/ DNA 5-10 cc 4-24 °C - 2 months pathology reports IHC
32 Breast Cancer Panel (2G) sequencing-mlpa blood EDTA/ DNA 5-10 cc 4-24 °C - 1 months pathology reports
33 Buccal Smear microscopic evaluation direct buccal smear - ambient temperature mouth washing 3-5 days -
34 Canavan disease enzyme assay skin test serum: 2-3 cc              amniotic fluid/chorionic villi : 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
35 Carrier screening full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS) of 301 genes  blood EDTA 5-10 cc 4-24 °C - 3 months medical documents
36 C-MYC (8q24/ SE8) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
37 C-Band karyotype analysis blood Heparin/َamniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 1 weeks medical documents
38 C-kit sequencing tissue / block 10 % Tumoral 25± 5 °C - 1-2 weeks pathology  and IHC reports for block
39 C-MYC/IGH t(8;14) fusion FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
40 CAH strip-mlpa blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks medical documents
41 CALR sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks CBC
42 ccND1 (11q13) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
43 ccND1/IGH t(11;14) fusion FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
44 CDK4 FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
45 CDKN2A FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
46 CDKN2A (9p21/ 9q21) FISH Analysis tissue - 4-24 °C - 2 weeks medical documents/pathology reports
47 Cystic fibrosis strip blood EDTA/ DNA 5-10 cc 4-24 °C - 3-4 weeks medical documents
48 Clotting Panel sequencing-strip blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks medical documents
49 Cockayne syndrome DNA repair serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
50 Cystic fibrosis Hypophosphatasia enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
51 Connexin-Ind sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 weeks audiotropy brainstem response
52 CV-Direct karyotype analysis chorionic villi 15mg 4-24 °C - 2-3 days last sonograghy report - double or quad markers reports
53 Cytology fluid microscopic evaluation body fluid - immediately (2-8)°C - 3-5days medical documents
54 Cytology FNA microscopic evaluation aspiration, fluid, slide - immediately (2-8)°C - 3-5 days medical documents
55 Cytology Pap Smear microscopic evaluation slide - ambient temperature (immediately)  - 3-5 days -
56 Cytology Pap Smear liquid microscopic evaluation fluid - ambient temperature (immediately)  - 3-5 days -
57 Cytology urine microscopic evaluation urine - ambient temperature (immediately)  لوله ادرار 2 تا 4 ساعت بعد از دفع ادرار صبحگاهي 3-5 days urine tset report
58 DDIT3 (12q13) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
59 DLEU1 (13q14)/ P53 (17p13) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/ bone marrow: 2.5-5 cc/ amniotic fluid: 2-10 cc/  CV: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
60 DMD Check mlpa-multiplex blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks electromyiography  
61 DNA Bank - blood EDTA 5-10 cc 4-24 °C - >3 years -
62 DPD strip blood EDTA 5-10 cc 4-24 °C - 2 weeks medical documents
63 Duchenne-Ind mlpa-multiplex blood EDTA/tissue /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2 weeks electromyiography
64 Duchenne-Male/Female mlpa-multiplex blood EDTA/ DNA 5-10 cc 4-24 °C - 1 months electromyiography
65 EGFR sequencing-strip tissue / block 10 % Tumoral 25± 5 °C - 1-2 weeks pathology  and IHC reports for block
66 EWS SR1(22q12) break FISH Analysis blood/bone marrow/tissue/amniotic fluid /chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
67 FA-Cytogenetic karyotype analysis blood heparin 5-10 cc 4-24 °C عدم مصرف انتي بيوتيک 3-7روز قبل  2-3 weeks medical documents+ CBC
68 FA-Cytogenetic karyotype analysis blood heparin 5-10 cc 4-24 °C عدم مصرف انتي بيوتيک 3-7روز قبل  2-3 weeks medical documents+ CBC
69 Factor XIII sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 weeks medical documents
70 Factor-V (Leiden) sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 weeks medical documents
71 FancA-sequencing-MLPA sequencing-mlpa blood EDTA/ DNA 5-10 cc 4-24 °C - 2 months medical documents+caryotype
72 FAP (APC gene mutation analysis) sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 2 months medical documents+pathology reports
73 FGFR3/IGH t(4;14) fusion FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
74 FIP1L1- CHIC2- PDGFRA (4q12) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
75 Fish  di George FISH Analysis blood heparin/ Slide 2.5-5 cc 4-24 °C - 15 days medical documents
76 Fish  Microdeletion FISH Analysis tissue / block/ Slide 2.5-5 cc 4-24 °C - 14 days medical documents
77 FISH  PND (13-21) FISH Analysis amniotic fluid/chorionic villi/slide        amniotic fluid: 2 - 10cc          chorionic villi: 15mg 4-24 °C - 3-5 days sonography reports/ double or quad markers reports
78 FISH  PND (18-X.Y) FISH Analysis amniotic fluid/chorionic villi/slide        amniotic fluid: 2 - 10cc          chorionic villi: 15mg 4-24 °C - 3-5 days sonography reports/ double or quad markers reports
79 FISH  PND Screen (13-21-18-X.Y) FISH Analysis amniotic fluid/chorionic villi/slide        amniotic fluid: 2 - 10cc          chorionic villi: 15mg 4-24 °C - 3-5 days sonography reports/ double or quad markers reports
80 Fish  Praderwilli FISH Analysis blood heparin/ Slide 2.5-5 cc 4-24 °C - 14 days medical documents
81 Fish  Subtelomeric(1-22, X,Y) FISH Analysis blood heparin/ Slide 2.5-5 cc 4-24 °C - 15 days medical documents
82 Fish-Williams FISH Analysis blood heparin/ Slide 2.5-5 cc 4-24 °C - 14 days medical documents
83 Fish-X,Y FISH Analysis blood heparin/ Slide        amniotic fluid: 2 - 10cc          chorionic villi: 15mg 4-24 °C - 14 days medical documents
84 FLT-3 sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1 weeks medical documents
85 Familial Mediterranean Fever (FMF)-Ind strip blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 weeks medical documents
86 FOXO1 (13q14) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood Heparin & BM: 2.5-5 cc    amniotic fluid: 2 10- cc        chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
87 Fragment Reaction sequencing PCR Product 10 ul room temperature - 3 days -
88 Fragment Run sequencing PCR Product 10 ul room temperature - 3 days -
89 Fragile X-Cyto karyotype analysis blood heparin 5-10 cc 4-24 °C - 1-2 months medical documents
91 Fragile X-Mol-Family PCR-Southern blood EDTA/ DNA 5-10 cc 4-24 °C - 1 month medical documents
92 Facio-Scapulo-Humeral Dystrophy  (FSHD) Single and double digest of DNA blood EDTA/ DNA 5-10 cc 4-24 °C - 3-5 months medical documents
93 Friedreich ataxia

PCR and triplet-primed PCR of

the GAA repeat

blood EDTA/ DNA 5-10 cc 4-24 °C - 3 months medical documents
94 Fragile X-Mol-Ind PCR-Southern blood EDTA/ DNA 5-10 cc 4-24 °C - 1 month medical documents
95 FUS break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
96 Fucosidosis enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
97 Gaucher-Ind strip blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks medical documents
98 Gaucher disease enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
99 GM1-gangliosidosis enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
100 GM2-gangliosidosis (Tay-Sachs) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
101 GM2-gangliosidosis (Sandhoff) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
102 GM2- gangliosidosis (AB variant) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
103 Gene sequencing >51 Exon sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 months medical documents
104 Gene sequencing 01-05 Exon sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 months medical documents
105 Gene sequencing 06-10 Exon sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 months medical documents
106 Gene sequencing 11-20 Exon sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 months medical documents
107 Gene sequencing 21-30 Exon sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 months medical documents
108 Gene sequencing 31-40 Exon sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 months medical documents
109 Gene sequencing 41-50 Exon sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 months medical documents
110 Glycogenosis III (Cori) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
111 Glycogenosis IV (Anderson) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
112 Glycogenosis II (Pompe) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
113 Galactosemia I enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
114 Galactosemia II enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
115 Haemachromatosis strip blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks medical documents
116 HER2/ HER2-neu FISH Analysis tissue/block - 4-24 °C - 2 weeks medical documents/pathology reports
117 Hereditary Diffuse Gastric Cancer (HDGC);CDH1 ge sequencing blood EDTA 5-10 cc 4-24 °C - 2 months medical documents
118 HNPcc sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 4-6 weeks medical documents
119 Huntington PCR of the triplet repeat region blood EDTA/ DNA 5-10 cc 4-24 °C - 2 month2 medical documents
120 Hypochondroplasia sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks medical documents+ radiography  reporet
121 IGH (14q32) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
122 IGH/MYEOV t(11;14) MYEO FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
123 IHC-Anaplastic lymphoma kinase (Alk) Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
124 IHC-Androgen Receptor Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
125 IHC-Bcl-2 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
126 IHC-Bcl-6 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
127 IHC-Beta-catenin Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
128 IHC-C-Kit (CD 117) Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
129 IHC-C4d Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
130 IHC-CA125 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
131 IHC-Caldesmon Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
132 IHC-Calretinin Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
133 IHC-CD10 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
134 IHC-CD138 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
135 IHC-CD15 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
136 IHC-CD1a Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
137 IHC-CD20 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
138 IHC-CD23 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
139 IHC-CD3 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
140 IHC-CD30 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
141 IHC-CD34 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
142 IHC-CD4 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
143 IHC-CD45 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
144 IHC-CD5 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
145 IHC-CD56 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
146 IHC-CD68 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
147 IHC-CD79a Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
148 IHC-CD8 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
149 IHC-CD99 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
150 IHC-CDX2 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
151 IHC-CEA Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
152 IHC-Chromogranin Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
153 IHC-CK14 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
154 IHC-CK20 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
155 IHC-CK5 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
156 IHC-CK5/6 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
157 IHC-CK7 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
158 IHC-Cyclin D1 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
159 IHC-Desmin Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
160 IHC-DOG1 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
161 IHC-DPC4 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
162 IHC-E-cadherin Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
163 IHC-EMA Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
164 IHC-ER Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
165 IHC-FLI1 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
166 IHC-GATA3 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
167 IHC-GCDFP15 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
168 IHC-Glypican3 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
169 IHC-Hep Par (HSA) Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
170 IHC-Her2 (c-erbB-2 Oncoprotein) Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
171 IHC-Ki67 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
172 IHC-Mamoglubin Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
173 IHC-Melan A Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
174 IHC-MLH1 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
175 IHC-MSH2 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
176 IHC-MSH6 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
177 IHC-MUC 5 AC Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
178 IHC-MUM1 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
179 IHC-Napsin A Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
180 IHC-OCT3/4 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
181 IHC-P16 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
182 IHC-P40 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
183 IHC-P53 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
184 IHC-P63 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
185 IHC-Pan CK (AE1/AE3) Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
186 IHC-PAX-5 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
187 IHC-PAX-8 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
188 IHC-PD-L1 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
189 IHC-PLAP Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
190 IHC-PMS2 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
191 IHC-PR Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
192 IHC-PSA Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
193 IHC-S100 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
194 IHC-Smooth muscle actin (SMA) Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
195 IHC-Synaptophysin Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
196 IHC-Tdt Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
197 IHC-TLE1 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
198 IHC-TTF1 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
199 IHC-Vimentin Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
200 IHC-WT1 Ab visual detection paraffin block/non-
stained cytologic slides
- Ambient temperature  - 7-10 days pathology reporet
201 Imatinib Resistance sequencing blood EDTA 5-10 cc 4-24 °C - 2 weeks medical documents
202 Inversion (16) FISH Analysis blood/bm/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
203 JAK2 gene v617F Mutation sequencing-Arms blood EDTA/ DNA 5-10 cc 4-24 °C - 1 weeks CBC+medical documents
204 K-ras strip-sequencing blood EDTA 5-10 cc 4-24 °C - 1 weeks pathology reports
205 K-ras MerckSerono strip-sequencing tissue / block 10 % Tumoral 25± 5 °C - 1 weeks pathology reports
206 Kennsdy Disease PCR of the CAG repeats in exon 1 followed by capillary electrophoresis to dermine number of repeats blood EDTA/ DNA 5-10 cc 4-24 °C - 2 monts medical documents
207 Lesch-Nyhan syndrome enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
208 KMT2A 11q23 FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
209 Krabbe disease enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
210 MAF/IGH t(14;16) fusion FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
211 MAFB/IGH t(14;20) fusion FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
212 MALT (18q21) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
213 MALT1(18q21)/ IGH (14q32) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C -  2 weeks medical documents/pathology reports
214 Maple syrup urine diseas enzyme assay amniotic fluid/chorionic villi/skin biopsy serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
215 Mamma print9 (70 Gene) micro-array-based gene expression fresh and formalin-fixed paraffin embedded breast tumor 10 slides which have 1cm2 of tumoral tissue 4-24 °C - 1 month medical documents/pathology reports/IHC
216 Metachromatic Leukodystrophy enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
217 Mcc Am-Culture sequencing amniotic fluid/ blood EDTA 5-10 cc 4-24 °C - 3-4 days sonography reports
218 Mcc-Markers sequencing blood EDTA 5-10 cc 4-24 °C - 3-4 days sonography reports
219 Mcc+QF-PCR Aneuploidies sequencing blood EDTA /tissue 5-10 cc 4-24 °C - 3-4 days sonography reports
220 MDM2 FISH Analysis blood/bm/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
221 MDM4 FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
222 MDS 7q-/(7q22;7q36) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
223 MIC/IGH t(8;14)(q24; q32) fusion FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
224 Mosaicism karyotype analysis blood Heparin/َamniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C عدم مصرف انتي بيوتيک 3-7روز قبل  2-4 weeks medical documents
225 MPL Mutation sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks CBC
226 MPS III C (Sanfilippo C) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
227 MPS III D (Sanfilippo D) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
228 MPS VI (Maroteaux-Lamy) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
229 MPS IV A (Morquio A) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
230 MPS IV B (Morquio B) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
231 MPS VII (Sly) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
232 MPS IIIA (Sanfilippo A) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
233 MPS II (Hunter) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
234 MPS IH/IS (Hurler/Scheie) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
235 MPS IIIB (Sanfilippo B) enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
236 Microsatellite Instability (MSI) sequencing blood EDTA +tissue/block/ DNA 5-10 cc 4-24 °C - 2 weeks medical documents
237 MTH-FR sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks medical documents
238 Mutation Confirmation sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1 month information of mutation 
239 Myotonic Dystrophy PCR and triplet-primed PCR blood EDTA/ DNA 5-10 cc 4-24 °C - 3 months medical documents
240 MYC (8q24) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
241 N-MYC FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
242 N-ras sequencing-strip blood EDTA 5-10 cc 4-24 °C - 1 week pathology reports
243 N-ras MerckSerono sequencing-strip tissue / block 10 % Tumoral 4-24 °C - 1 week pathology reports
244 Niemann-Pick disease C enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
245 Niemann-Pick A and B enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
246 NGS-Albinism (12G) sequencing blood EDTA  5-10 cc 4-24 °C - 3-6 months medical documents
247 NGS-Ataxia (152G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
248 NGS-BBS(22G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
249 NGS-Breast and Gyn Cancer (19G)

full-gene sequencing and deletion/duplication analysis using

next-generation sequencing

technology (NGS)

blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
250 NGS-Ciliopathies (161G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
251

NGS-CMT & Sensory Neuropathies

(103G)Exome

sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
252 NGS  Colon Cancer

full-gene sequencing and deletion/duplication analysis using

next-generation sequencing

technology (NGS)

blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
253 NGS-Congenital & Distal Myopathies (74G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
254 NGS-CongenitalMyasthenicSyndromes&Arthrogryposis (44G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
255 NGS-Corpus Callosum Agenesis (107G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
256 NGS-Craniofacial anomalies (119G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
257 NGS-Disorders in sex development (85G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
258 NGS-Duo (Proband & 1 family member) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
259 NGS-Epidermolysis bullosa (19G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
260 NGS-Epilepcy (724G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
261 NGS-Exome (OMIM phenotype) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
262 NGS-Fanconi Anemia (18G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
263 NGS-Glutaric Aciduria (4G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
264 NGS-Glycine Encephalopathy (3G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
265 NGS-Hearing Loss (133G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
266 NGS-Hemophagocytic Lymphohistiocystosis (6G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
267 NGS-Hemostatic/Thrombotic disorders (111G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
268 NGS-Hereditary auto-inflammatory diseases (30G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
269 NGS-Hereditary cancer (153G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
270 NGS-Hereditary Spastic Paraplegia (133G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
271 NGS-Hyerphenylalaninemia (5G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
272 NGS-ID (Syndromic-NonSyndromic)(1096G)Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
273 NGS-Iron disorders (44G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
274 NGS-Joubert Syndrome (28G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
275 NGS-Long QT Syndrome (17G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
276 NGS-Lysosomal Disorders(28G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
277 NGS-Maple syrup urine disease (4G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
278 NGS-Marfan and Marfan-like syndromes (45G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
279 NGS-Mendelian Disorders (3504G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
280 NGS-Metabolic disorders (575G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
281 NGS-Metabolic Myopathies(42G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
282 NGS-Methylmalonic acidemia (11G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
283 NGS-Microcephaly Pontocerebellar hypoplasia (54G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
284 NGS-Mitochondrial disorders (392G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
285 NGS-Movement disorders (231G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
286 NGS-Multiple congenital anomalies (2985G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
287 NGS-Muscular Dystrophy (53G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
288 NGS-MuscularDystrophy&Muscledisorders (494G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
289 NGS-Myotonia (10G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
290 NGS-Neurofibromatosis (10G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
291 NGS-Non Syndromic Ichthyosis (18G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
292 NGS-Osteogenesis imperfecta (24G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
293 NGS-Osteopetrosis (8G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
294 NGS-Parents (Including carrier detection) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
295 NGS-Peroxisomal Disorders (17G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
296 NGS-Polycystic kidney disease (12G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
297 NGS-Premature Ovarian Failure (18G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
298 NGS-Primary immundeficincies (358G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
299 NGS-Quad (Proband & 3 family members) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
300 NGS Reanalysis of data sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
301 NGS Research Exome 100X sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
302 NGS Retinitis Pigmentosa (RP)(284G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
303 NGS-Skin disorders (618G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
304 NGS-SMA (25G) sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
305 NGS-Trio (Proband & 2 family preferred members) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
306 NGS-Vision disorders (436G) Exome sequencing blood EDTA 5-10 cc 4-24 °C - 3-6 months medical documents
307 Non-Invasive Prenatal Test (NIPT)

whole genome sequencing of

cfDNA fragments

DNA in streck tubes 10 cc 4-24 C° - 2-3 weeks Ultra-sound examination, double or quad markers
308 NOR-band karyotype analysis blood Heparin/amniotic fluid/chorionic villi blood Heparin & BM: 2.5-5 cc    amniotic fluid: 2 10- cc        chorionic villi: 15mg 4-24 °C - 1 week caryotype+ medical documents
309 NPM-1 sequencing blood EDTA 5-10 cc 4-24 °C - 2 weeks CBC
310 OA-CGH Oligo array CGH 8*60 blood EDTA/ DNA 5-10 cc 4-24 °C - 1 months medical documents
311 P53 (17P13)/ATM (11q22) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood Heparin & BM: 2.5-5 cc    amniotic fluid: 2 10- cc        chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
312 Plasminogen Activator Inhibitor (PAI) sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks medical documents
313 Panel ALL nested pcr blood EDTA 5-10 cc 4-24 °C - 2-4 weeks CBC
314 Panel AML nested pcr blood EDTA 5-10 cc 4-24 °C - 2-4 weeks CBC
315 Panel Spino-Cerebrallar Ataxia (SCA,1,2,3,6,7,17) PCR of the CAG repeats in SCA1,2,3,6,7,17 blood EDTA 5-10 cc 4-24 °C - 3 months medical documents
316 Paternity nested pcr blood EDTA /tissue /amniotic fluid
/chorionic villi
5-10 cc 4-24 °C - 1 months id card for parents and baby
317 Paternity-Ind nested pcr blood EDTA/tissue /amniotic fluid/chorionic villi 5-10 cc 4-24 °C - 1 month id card for parents and baby
318 Pathology sample processing and direct examination tissue - in formalin (10% buffered) - 5-7 days medical documents
319 PB-Cytogenetic karyotype analysis blood Heparin 5-10 cc 4-24 °C - 10-14 days medical documents
320 PDGFB PDGFB/COL1A1 t(17;22 FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
321 PDGFRB (5q32) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
322 PGD-Pre sequencing blood EDTA 5-10 cc 4-24 °C - 1-2 weeks medical documents
323 PGS 24Sure بلاستومر حدقل 1بلاستومر 4-10 °C - 1-2 days medical documents
324 PKU Male/Female sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1 month medical documents
325 PML/ RARA t(15;17) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
326 PND-Alpha sequencing-mlpa-multiplex-strip blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2-3 weeks result of first test 
327 PND-Array Oligo array CGH 8*60 amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2-3 weeks sonography reports/ double or quad markers reports
328 PND-CAH mlpa-strip blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2-3 weeks sonography reports+result of first test
329 PND-CF sequencing-strip blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2-3 weeks sonography reports+result of first test
330 PND-CV-Cytogentics karyotype analysis chorionic villi 15mg 4-24 °C - 2-3 weeks sonography reports+result of first test
331 PND-Duchenne mlpa-multiplex blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2-3 weeks result of first test
332 PND-FraX PCR-Southern blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2-3 weeks result of first test
333 PND-Gaucher strip blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2-3 weeks result of first test 
334 PND-Mutation Confirmation sequencing blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2 weeks medical documents 
335 PND-PKU sequencing blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 1 weeks result of first test 
336 PND-Sex PCR blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 1 week sonography reports
337 PND-SMA mlpa-real time blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2-3 weeks  result of first test+sonography reports
338 PND-Thal Beta sequencing-mlpa-strip-arms-rflp blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 2 weeks  result of first test+sonography reports
339 PNP deficiency enzyme assay serum/amniotic fluid/chorionic villi 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
340 Prothrombin (PTH) (Factor II) sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 weeks medical documents
341 QF-PCR Aneuploidies sequencing blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 1-3 days sonography reports
342 RT-PCR (9;22)-Quantitative nested pcr blood EDTA 5-10 cc 4-24 °C - 2 weeks CBC
343 RT-PCR inv(16) nested pcr blood EDTA 5-10 cc 4-24 °C - 3 days CBC
344 RT-PCR(1;19) nested pcr blood EDTA 5-10 cc 4-24 °C - 3 days CBC
345 RT-PCR(12;21) nested pcr blood EDTA 5-10 cc 4-24 °C - 3 days CBC
346 RT-PCR(15;17) nested pcr blood EDTA 5-10 cc 4-24 °C - 3 days CBC
347 RT-PCR(4;11) nested pcr blood EDTA 5-10 cc 4-24 °C - 3 days CBC
348 RT-PCR(8;21) nested pcr blood EDTA 5-10 cc 4-24 °C - 3 days CBC
349 RT-PCR(9;22) nested pcr blood EDTA 5-10 cc 4-24 °C - 3 days CBC
350 RT-PCR(TAL1D) nested pcr blood EDTA 5-10 cc 4-24 °C - 1 week CBC
351 sequencing-HFE, Hematochromatosis sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1 month medical documents
352 sequencing CAPN3 sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1 month medical documents
353 sequencing CFTR, cystic fibrosis sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1 month medical documents
354 sequencing Dystrophin, DMD/BMD sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2  months medical documents
355 sequencing MEFV, FMF sequencing blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2  months medical documents
356 Sex-Determination PCR blood EDTA +amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 3 days medical documents
357 SMA-Male/Female mlpa-realtime blood EDTA/ DNA 5-10 cc 4-24 °C - 2 weeks medical documents
358 SNP array Oligo array 4*180 blood EDTA/ DNA DNA: 4µg  Tisue: 15mg 25± 5 °C - 1 month medical documents
359 Smith-Lemli-Optiz syndrome  (measurment of 7-dehydrocholestrol/cholestrol)

gas chromatography/mass

spectrometry

Plasma/amniotic fluid 2-5 cc 4-24 °C - 1 month medical documents
360 Sialidosis (Mucolipidosis I)  enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
361 SRY/Sex Determination PCR blood EDTA /amniotic fluid/chorionic villi/ DNA 5-10 cc 4-24 °C - 3 days medical documents
362 SS18 (18q11) break FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
363 TC-Cytoanalysis karyotype analysis tissue 15mg 4-24 °C - 30-40 days medical documents
364 TEL/AML t(12;21) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
365 TERC (3q26)/ MYC (8q24) FISH Analysis blood/bone marrow/tissue/amniotic fluid/chorionic villi blood heparin/bone marrow: 2.5-5 cc/amniotic fluid: 2 10- cc/chorionic villi: 15mg 4-24 °C - 2 weeks medical documents/pathology reports
366 Thal II-1 ; XMN Arms-rflp blood EDTA/ DNA 5-10 cc 4-24 °C - 1 month CBC+ HB electrophores
367 Tuberous Sclerosis sequencing/MLPA of TSC1 and TSC2 blood EDTA/ DNA 5-10 cc 4-24 °C - 3 months medical documents
368 Whole genome amplification (WGA) amplification blastomere at least 1 blastomere 4 °C - 1-2 weeks medical documents
369 Wolman disease and CESD enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
370 Y-Microdeletion multiplex blood EDTA/ DNA 5-10 cc 4-24 °C - 1-2 weeks spermogram report
371 X-linked ichthyosis enzyme assay serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents
372 Xeroderma pigmentosum 
DNA repair
serum/amniotic fluid/chorionic villi serum: 2-3 cc              amniotic fluid& chorionic villi: 5-10 cc 4-24 °C - chorionic villi:2-3 week  amniotic fluid:4-5 weeks   serum:4-6 months medical documents