
Neurology
Mental health and neurological problems are in rise in population. Cause of these problems have broad spectrum and in variably genetics has centric role in pathogenesis and pathophysiology. Although most neurological problems have complex presentation and thus understanding the source is necessary. A thorough clinical details with precise selection of genetic tests can lead to cure.
GeneXplore, based on state of art infrastructure and a decade long experience in neuronal genetics, assist clinicians and patients to select the necessary test and work on one gene approach. Microarray has proved to be very functional tool for detecting deletion and duplication upto 30Kbp resolution. Followed by next generation sequence based analysis would complete the spectrum. Bringing both platforms at use will take clinician one step closer to treatment.
Karyotyping
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 |
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 |
FISH Investigation
Test Code | Test | SAMPLE | CONTAINER TYPE | TAT |
---|---|---|---|---|
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) |
Conventional PCR Study and Gel and Sequencing Based Detection
Test Code | Test | SAMPLE | CONTAINER TYPE | TAT |
---|---|---|---|---|
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 | ||||
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 | ||||
P012 | Huntington’s Disease | Peripheral blood | EDTA vacutainer (2ml) | 5-6 Days |
P013 | Spinocerebellar Ataxias (SCA) | Peripheral blood | EDTA vacutainer (2ml) | 5-6 Days |
(Single form ) | ||||
P014 | Spinocerebellar Ataxias | Peripheral blood | EDTA vacutainer (2ml) | 5-6 Days |
SCA Panel | ||||
(1, 2, 3, 6, 7, 10 & 12) | ||||
P015 | RETT Syndrome | Peripheral blood | EDTA vacutainer (2ml) | 10-15 days |
Infectious Disease PCR
Test Code | Test | TAT | Sample Type | CONTAINER TYPE |
---|---|---|---|---|
ID001 | CMV DNA PCR | 2-3 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID002 | CMV Quantitative Real Time PCR | 3-4 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID003 | HBV DNA PCR (Qualitative) | 2-3 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID004 | HBV Genotyping (Sequencing Method) | 3-4 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID005 | HBV Quantitative Real Time PCR | 3-4 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID006 | HCV Genotyping (Sequencing Method) | 3-4 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID007 | HCV Quantitative Real Time PCR | 3-4 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID008 | HCV RNA PCR (Qualitative) | 2-3 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID009 | Hepatitis A Virus RNA RT-PCR(HAV) | 3-4 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID010 | Herpes Simplex | 2-3 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID011 | Human Papilloma Virus (HPV) with LBC | 2-3 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID012 | TB DNA PCR Qualitative (Real Time PCR) | 1-2 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID013 | HIV Proviral DNA PCR | 2-3 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID014 | HIV-1 Quantitative Real Time PCR | 3-4 Days | Peripheral blood | EDTA vacutainer (2ml) |
ID015 | HIV Genotyping | 10-15 days` | Peripheral blood | EDTA vacutainer (2ml) |
Microarray Analysis
Test Code | Test | Sample type | TAT |
---|---|---|---|
MC001 | Chromosomal Micaroarray Analysis (array CGH) 8X60k | Amniotic Fluid | 15days |
(20ml) | |||
MC003 | Chromosomal Micaroarray Analysis (array CGH) 8X60k | Peripheral Blood | 15days |
(4ml in EDTA vaccutainer) | |||
MC006 | Array CGH + SNP analysis | All type of Biological samples | 30days |
NEXT GENERATION SEQUENCING BASED Analysis
Test Code | Test | Sample type | TAT |
---|---|---|---|
NEUROLOGY | |||
NG013 | Neurology Panel | EDTA Blood/Tissue | 4-5 weeks |
NG014 | Muscular Dystrophy and Myopathy Panel | EDTA Blood/Tissue | 4-5 weeks |
NG015 | Mitochondrial Panel | EDTA Blood/Tissue | 4-5 weeks |
CLINICAL EXOME TEST | |||
NG016 | Clinical Exome Test covers 4800 genes associated with known clinical phenotypes | Saliva sample/EDTA Blood/Tissue | 8 - 10 weeks |
Package Genetic Diagnosis
Test Code | Test |
---|---|
PAC-09 | Neuronal/ASD/Delayed Development |
Karyotyping (K001) | |
aCGH- Microarray (MC001) |