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
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)
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
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)
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
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
Test Code Test
PAC-09 Neuronal/ASD/Delayed Development
Karyotyping (K001)
aCGH- Microarray (MC001)

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.

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