About 30% couple today seek aid of IVF clinic for a healthy child. Newer technologies and better understanding of the cause of infertility is crucial in this process. Genetic report delivers a precise understanding of the situation and helps clinicians to select the future course of treatment line.
GeneXplore Diagnosis and Research Centre, thriving to deliver the best of technologies for better understanding and go to the root of clinical manifestation. Couple karyotype has been introduced as screening for every infertile couple to rule out balanced translocation even before single cycle failure.
Selective male and female infertility panel aids clinician to narrow down on the cause of infertility. PGS/PGD have proved to improve the success rate of IVF cycles by 30% and playing crucial role in reducing genetic disorder burden from society.
| Test Code | Test | SAMPLE | CONTAINER TYPE | TAT |
|---|---|---|---|---|
| K001 | Peripheral blood cells For Karyotyping [Single] | Peripheral blood | Sodium heparin Vacutainer (2ml) | 7-8 days |
| K002 | Peripheral blood cells For Karyotyping [Couple] | Peripheral blood | Sodium heparin Vacutainer (2ml) | 7-8 days |
| K003 | Fetal Blood Sample For Karyotyping | Peripheral blood | Sodium heparin Vacutainer (2ml) | 7-8 days |
| K004 | Products Of Conception [POC] | Placental tissue | Bits of Placental Tissue in sterile tissue culture container with normal saline or culture media | 15-20 days |
| K006 | Amniotic Fluid [AF] | Amniotic fluid | 2 leak proof Sterile Tubes (15 ml each) | 15-20 days |
| K007 | Fragile X Analysis | Peripheral blood | Sodium heparin Vacutainer (2ml) | 7-8 days |
| K008 | Fragile X Analysis (Prenatal) | Chorionic villi/ Amniotic fluid | Bits of chorionic tissue in Sterile culture container with normal saline or culture media / 2 leak proof Sterile Tubes (15 ml each) | 15-20 days |
| K009 | High Resolution Chromosome Study | Peripheral blood | Sodium heparin Vacutainer (2ml) | 7-8 days |
| K011 | Chorionic Villus Sample [CVS] | Chorionic villi | Bits of chorionic Tissue Sterile tissue culture container with normal saline or culture media | 15-20 days |
| K012 | Cord blood sample (Abortus and prenatal) | Cord Blood | Sodium Heparin Vaccutainer (2ml) | 7-8 days |
| Test Code | Test | SAMPLE | CONTAINER TYPE | TAT |
|---|---|---|---|---|
| F012 | Del(20q) [MDS] | Bone marrow / Peripheral blood | Sodium heparin Vacutainer (2ml) | 5-6 days |
| F013 | Del(5q) [MDS] | Bone marrow / Peripheral blood | Sodium heparin Vacutainer (2ml) | 5-6 days |
| F014 | Del(7q) [MDS] | Bone marrow / Peripheral blood | Sodium heparin Vacutainer (2ml) | 5-6 days |
| F016 | 17p(p53) | Bone marrow / Peripheral blood | Sodium heparin Vacutainer (2ml) | 5-6 days |
| F017 | 11q(ATM) | Bone marrow / Peripheral blood | Sodium heparin Vacutainer (2ml) | 5-6 days |
| F018 | Prader-Willi Syndrome | Peripheral blood | Sodium heparin Vacutainer (2ml) | 5-6 days |
| F019 | William's Syndrome | Peripheral blood | Sodium heparin Vacutainer (2ml) | 5-6 days |
| F020 | Di-George Syndrome | Peripheral blood | Sodium heparin Vacutainer (2ml) | 5-6 days |
| F021 | CHROMOSOMES [13, 18, 21, X & Y] | Amniotic fluid | Sterile container (20ml) | 5-6 days |
| Chorionic villi | Sterile Container | |||
| Blood | Heparin vacutainer (2ml) | |||
| F022 | Single Chromosome FISH | Amniotic fluid | Sterile container (20ml) | 5-6 days |
| (13/18/21/X/Y) | Chorionic villi | Sterile Container | ||
| Blood | Heparin vacutainer (2ml) |
| Test Code | Test | SAMPLE | CONTAINER TYPE | TAT |
|---|---|---|---|---|
| MI001 | Y Chromosome Micro-deletion | Peripheral blood | EDTA vacutainer (2ml) | 4-5days |
| MI002 | Sperm DNA fragmentation | Semen Sample | Sterile Container | 4-5days |
| Test Code | Test | SAMPLE | CONTAINER TYPE | TAT |
|---|---|---|---|---|
| C006 | TORCH PCR | Bone marrow / Peripheral blood | EDTA vacutainer (2ml) | 5-6 days |
| Test Code | Test | SAMPLE | CONTAINER TYPE | TAT |
|---|---|---|---|---|
| P001 | β-Thalassemia | Amniotic fluid / Chorionic villi / Blood | Sterile container (20ml)/ Sterile Normal Saline Container / EDTA vacutainer (2ml) | 4-5days |
| Five common mutations (IVS 1-5 G>C, IVS 1-1 G>T, 619 bp deletion, FS 8/9 +G, FS 41/42 – CTTT) | ||||
| P002 | Fragile X Syndrome | Peripheral blood | EDTA vacutainer (2ml) | 10-15days |
| Southern Blot based analysis for FRAXA locus using EcoRI, PstI, and EcoRI+EagI digestion | ||||
| P003 | Glucose 6 phosphate dehydrogenase | Peripheral blood | EDTA vacutainer (2ml) | 6-7days |
| Orissa, Mediterranean and kerala kalian mutaions | ||||
| P004 | Hemophilia-A | Peripheral blood | EDTA vacutainer (2ml) | 10-15 days |
| Intron-22 inversion by Southern Blot analysis & Carrier analysis @ markers (BclI & XbaI RFLP) | ||||
| Hemophilia-B | ||||
| Carrier analysis @ intragenic markers (HhaI, DdeI, TaqI) | ||||
| P005 | Spinal Muscular Atrophy | Peripheral blood | EDTA vacutainer (2ml) | 6-7days |
| · Deletion analysis (exon7 & 8 only) | ||||
| · Carrier analysis using MLPA | ||||
| P006 | MTHFR gene polymorphisms | Peripheral blood | EDTA vacutainer (2ml) | 10 days |
| 677T>C and 1298A>C mutations | ||||
| P007 | Duchenne and Becker Muscular Dystrophy | Peripheral blood | EDTA vacutainer (2ml) | 6-7days |
| · Deletion analysis for exons 24 & 79 by MLPA analysis | ||||
| P008 | Cystic fibrosis | Peripheral blood | EDTA vacutainer (2ml) | 6-7days |
| Four common mutations (dF508, G542X, G551D, R553X) and 5T | ||||
| P009 | Non-Syndromic Hearing Loss (NSHL) | Peripheral blood | EDTA vacutainer (2ml) | 10 Days |
| Connexin 26 (GJB2) exon 2 screening | ||||
| P011 | Mitochondrial encephalopathy | Peripheral blood | EDTA vacutainer (2ml) | 10 Days |
| Leigh's Disease (LD) | ||||
| P012 | Mitochondrial encephalopathy | Peripheral blood | EDTA vacutainer (2ml) | 10 Days |
| LHON panel |
| Test Code | Test | Sample type | TAT |
|---|---|---|---|
| ID001 | CMV DNA PCR | EDTA vacutainer (2ml) | 2-3 Days |
| ID002 | CMV Quantitative Real Time PCR | EDTA vacutainer (2ml) | 3-4 Days |
| ID010 | Herpes Simplex | EDTA vacutainer (2ml) | 2-3 Days |
| ID011 | Human Papilloma Virus (HPV) with LBC | EDTA vacutainer (2ml) | 2-3 Days |
| ID012 | TB DNA PCR Qualitative (Real Time PCR) | EDTA vacutainer (2ml) | 1-2 Days |
| ID013 | HIV Proviral DNA PCR | EDTA vacutainer (2ml) | 2-3 Days |
| ID014 | HIV-1 Quantitative Real Time PCR | EDTA vacutainer (2ml) | 3-4 Days |
| ID015 | HIV Genotyping | EDTA vacutainer (2ml) | 10-15 days` |
| Test Code | Test | Sample type | TAT |
|---|---|---|---|
| MC001 | Chromosomal Micaroarray Analysis (array CGH) 8X60k | Amniotic Fluid | 15days |
| (20ml) | |||
| MC002 | Chromosomal Micaroarray Analysis (array CGH) 8X60k | Product of Conception (15ml sterile tube) | 15days |
| MC003 | Chromosomal Micaroarray Analysis (array CGH) 8X60k | Peripheral Blood | 15days |
| (4ml in EDTA vaccutainer) | |||
| MC004 | Pre-implantation Genetic Screening (PGS) 8X60k | Blastomere (ONE or TWO) in Kit provided by Centre | 48hours |
| (Embryo Biopsy) | |||
| Minimum four Biopsy per Patient | |||
| MC005 | Pre-implantation Genetic Screening (PGS) 8X60k | Blastocyst Biopsy (Trophectoderm) in Kit provided by Centre | 7-12 days |
| (Embryo Biopsy) | |||
| Minimum four Biopsy per Patient | |||
| MC006 | Array CGH + SNP analysis | All type of Biological samples | 30days |
| Test Code | Test | Sample type | TAT |
|---|---|---|---|
| CANCER PANELS | |||
| NG002 | Breast Carcinoma Panel | Saliva sample/EDTA Blood/Tissue | 15days |
| NG005 | Comprehensive Cancer Panel (Germline Panel) | Saliva sample/EDTA Blood/Tissue | 4 – 6 weeks |
| CLINICAL EXOME TEST | |||
| NG016 | Clinical Exome Test covers 4800 genes associated with known clinical phenotypes | Saliva sample/EDTA Blood/Tissue | 8 - 10 weeks |
| Test Code | Test |
|---|---|
| PAC-01 | Male Infertility |
| Karyotyping (K001) | |
| Y chromosome microdeletion (MI001) | |
| Sperm DNA fragmentation (MI002) | |
| PAC-02 | Female Infertility |
| Karyotyping (K001) | |
| FMR1 Gene Muataion Analysis | |
| FSH R Gene Mutation Analysis | |
| Cyp21A2 | |
| PAC-03 | Amniotic Fluid |
| Karyotyping (K006) | |
| FISH 5 chromosomes (F021) | |
| ACGH- Microarray (MC001) | |
| PAC-04 | Amniotic Fluid |
| Karyotyping (K006) | |
| FISH 5 chromosomes (F021) | |
| PAC-05 | Product of Conception |
| Karyotyping (K004) | |
| FISH 5 chromosomes (F021) | |
| ACGH- Microarray (MC002) | |
| PAC-06 | Product of Conception |
| Karyotyping (K004) | |
| FISH 5 chromosomes (F021) | |
| PAC-08 | Chorionic Villus Sample |
| Karyotyping (K0011) | |
| FISH 5 chromosomes (F021) | |
| ACGH- Microarray (MC002) | |
| PAC-09 | Chorionic Villus Sample |
| Karyotyping (K0011) | |
| FISH 5 chromosomes (F021) |
