LIST OF INVESTIGATIONS

Transcription

1 Karyotyping: K001 K002 LIST OF INVESTIGATIONS SAMPLE CONTAINER TYPE cells For Karyotyping [Single] cells For Karyotyping [Couple] Vacutainer Vacutainer K003 Fetal Blood Sample For Karyotyping Vacutainer 7-8 K004 Products Of Conception [POC] Placental tissue Bits of Placental Tissue in sterile tissue culture container with normal saline or culture media K006 Amniotic Fluid [AF] 2 leak proof Sterile Tubes (15 ml each) K007 Fragile X Analysis Vacutainer 7-8 K008 Fragile X Analysis (Prenatal) Chorionic villi/ Bits of chorionic tissue in Sterile culture container with normal saline or culture media / 2 leak proof Sterile Tubes (15 ml each) K009 High Resolution Chromosome Study Vacutainer 7-8 K011 K012 Chorionic Villus Sample [CVS] Cord blood sample (Abortus and prenatal) Chorionic villi Cord Blood Bits of chorionic Tissue Sterile tissue culture container with normal saline or culture media Sodium Heparin Vaccutainer 7-8 Page 1 of 6

2 FISH Investigation: F012 F013 F014 F016 F017 F018 SAMPLE CONTAINER TYPE Del(20q) [MDS] Del(5q) [MDS] Del(7q) [MDS] 17p(p53) 11q(ATM) Prader-Willi Syndrome F019 William's Syndrome F020 F021 F022 Di-George Syndrome CHROMOSOMES [13, 18, 21, X & Y] Single Chromosome FISH (13/18/21/X/Y) Chorionic villi Blood Chorionic villi Blood Vacutainer Vacutainer Vacutainer Vacutainer Vacutainer Vacutainer Vacutainer Vacutainer Sterile container (20ml) Sterile Container Heparin vacutainer Sterile container (20ml) Sterile Container Heparin vacutainer Male Infertility MI001 Y Chromosome Microdeletion MI002 Sperm DNA fragmentation SAMPLE al blood Semen Sample CONTAINER TYPE 4-5 Sterile Container 4-5 REAL Time PCR: C006 TORCH PCR SAMPLE Bone marrow / al blood CONTAINER TYPE Page 2 of 6

3 Conventional PCR Study and Gel and Sequencing Based Detection: Cod e P001 β-thalassemia Five common mutations (IVS 1-5 G>C, IVS 1-1 G>T, 619 bp deletion, FS 8/9 +G, FS 41/42 CTTT) SAMPLE Amniotic fluid / Chorioni c villi / Blood CONTAINER TYPE Sterile container (20ml)/ Sterile Normal Saline 4-5 Container / EDTA vacutainer P002 Fragile X Syndrome Southern Blot based analysis for FRAXA locus using EcoRI, PstI, and EcoRI+EagI digestion P003 P004 P005 Glucose 6 phosphate dehydrogenase Orissa, Mediterranean and kerala kalian mutaions Hemophilia-A Intron-22 inversion by Southern Blot analysis & Carrier markers (BclI & XbaI RFLP) Hemophilia-B Carrier intragenic markers (HhaI, DdeI, TaqI) Spinal Muscular Atrophy Deletion analysis (exon7 & 8 only) Carrier analysis using MLPA P006 MTHFR gene polymorphisms 677T>C and 1298A>C mutations 10 P007 P008 P009 P011 P012 Duchenne and Becker Muscular Dystrophy Deletion analysis for exons 24 & 79 by MLPA analysis Cystic fibrosis Four common mutations (df508, G542X, G551D, R553X) and 5T Non-Syndromic Hearing Loss (NSHL) Connexin 26 (GJB2) exon 2 screening Mitochondrial encephalopathy Leigh's Disease (LD) Mitochondrial encephalopathy LHON panel Days 10 Days 10 Days Page 3 of 6

4 Infectious Disease PCR: Sample type ID001 CMV DNA PCR ID002 CMV Quantitative Real Time PCR 3-4 Days ID010 Herpes Simplex ID011 Human Papilloma Virus (HPV) with LBC ID012 TB DNA PCR Qualitative (Real Time PCR) 1-2 Days ID013 HIV Proviral DNA PCR ID014 HIV-1 Quantitative Real Time PCR 3-4 Days ID015 HIV Genotyping ` Page 4 of 6

5 Microarray Analysis: MC001 MC002 MC003 MC004 MC005 Sample type Chromosomal Micaroarray Analysis (array CGH) 8X60k Chromosomal Micaroarray Analysis (array CGH) 8X60k Chromosomal Micaroarray Analysis (array CGH) 8X60k Pre-implantation Genetic Screening (PGS) 8X60k Pre-implantation Genetic Screening (PGS) 8X60k MC006 Array CGH + SNP analysis Amniotic Fluid (20ml) Product of Conception (15ml sterile tube) al Blood (4ml in EDTA vaccutainer) Blastomere (ONE or TWO) in Kit provided by Centre (Embryo Biopsy) Minimum four Biopsy per Patient Blastocyst Biopsy (Trophectoderm) in Kit provided by Centre (Embryo Biopsy) Minimum four Biopsy per Patient All type of Biological samples hours Page 5 of 6

6 NEXT GENERATION SEQUENCING BASED Analysis: Sample type NG002 NG005 NG016 Package Genetic Diagnosis: CANCER PANELS Saliva sample/edta Breast Carcinoma Panel Blood/Tissue Comprehensive Cancer Saliva sample/edta Panel (Germline Panel) Blood/Tissue CLINICAL EXOME TEST Clinical Exome covers Saliva sample/edta 4800 genes associated with Blood/Tissue known clinical phenotypes weeks 8-10 weeks PAC-01 PAC-02 PAC-03 PAC-04 PAC-05 PAC-06 PAC-08 PAC-09 Male Infertility Karyotyping (K001) Y chromosome microdeletion (MI001) Sperm DNA fragmentation (MI002) Female Infertility Karyotyping (K001) FMR1 Gene Muataion Analysis FSH R Gene Mutation Analysis Cyp21A2 Amniotic Fluid Karyotyping (K006) ACGH- Microarray (MC001) Amniotic Fluid Karyotyping (K006) Product of Conception Karyotyping (K004) ACGH- Microarray (MC002) Product of Conception Karyotyping (K004) Chorionic Villus Sample Karyotyping (K0011) ACGH- Microarray (MC002) Chorionic Villus Sample Karyotyping (K0011) Page 6 of 6