neuro11

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.

Download Test List PDF

Karyotyping

Test CodeTestSAMPLECONTAINER TYPETAT
K001Peripheral blood cells For Karyotyping [Single]Peripheral bloodSodium heparin Vacutainer (2ml)7-8 days
K002Peripheral blood cells For Karyotyping [Couple]Peripheral bloodSodium heparin Vacutainer (2ml)7-8 days
K007Fragile X AnalysisPeripheral bloodSodium heparin Vacutainer (2ml)7-8 days
K008Fragile X Analysis (Prenatal)Chorionic villi/ Amniotic fluidBits of chorionic tissue in Sterile culture container with normal saline or culture media / 2 leak proof Sterile Tubes (15 ml each)15-20 days
K009High Resolution Chromosome StudyPeripheral bloodSodium heparin Vacutainer (2ml)7-8 days

FISH Investigation

Test CodeTestSAMPLECONTAINER TYPETAT
F01617p(p53)Bone marrow / Peripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F01711q(ATM)Bone marrow / Peripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F018Prader-Willi SyndromePeripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F019William's SyndromePeripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F020Di-George SyndromePeripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F021CHROMOSOMES [13, 18, 21, X & Y]Amniotic fluidSterile container (20ml) 5-6 days
Chorionic villiSterile Container
BloodHeparin vacutainer (2ml)
F022Single Chromosome FISHAmniotic fluidSterile container (20ml) 5-6 days
(13/18/21/X/Y)Chorionic villiSterile Container
BloodHeparin vacutainer (2ml)

Conventional PCR Study and Gel and Sequencing Based Detection

Test CodeTestSAMPLECONTAINER TYPETAT
P002Fragile X SyndromePeripheral bloodEDTA vacutainer (2ml)10-15days
Southern Blot based analysis for FRAXA locus using EcoRI, PstI, and EcoRI+EagI digestion
P005Spinal Muscular Atrophy Peripheral bloodEDTA vacutainer (2ml)6-7days
·    Deletion analysis (exon7 & 8 only)
·    Carrier analysis using MLPA
P006MTHFR gene polymorphisms Peripheral bloodEDTA vacutainer (2ml)10 days
677T>C and 1298A>C mutations
P007Duchenne and Becker Muscular Dystrophy Peripheral bloodEDTA vacutainer (2ml)6-7days
·    Deletion analysis for exons 24 & 79 by MLPA analysis
P008Cystic fibrosis Peripheral bloodEDTA vacutainer (2ml)6-7days
Four common mutations (dF508, G542X, G551D, R553X) and 5T
P009Non-Syndromic Hearing Loss (NSHL) Peripheral bloodEDTA vacutainer (2ml)10 Days
Connexin 26 (GJB2) exon 2 screening
P011Mitochondrial encephalopathy Peripheral bloodEDTA vacutainer (2ml)10 Days
Leigh's Disease (LD)
P012Mitochondrial encephalopathy Peripheral bloodEDTA vacutainer (2ml)10 Days
LHON panel
P012Huntington’s DiseasePeripheral bloodEDTA vacutainer (2ml)5-6 Days
P013Spinocerebellar Ataxias (SCA)Peripheral bloodEDTA vacutainer (2ml)5-6 Days
(Single form )
P014Spinocerebellar Ataxias Peripheral bloodEDTA vacutainer (2ml)5-6 Days
SCA Panel
(1, 2, 3, 6, 7, 10 & 12)
P015RETT SyndromePeripheral bloodEDTA vacutainer (2ml)10-15 days

Infectious Disease PCR

Test CodeTestTATSample TypeCONTAINER TYPE
ID001CMV DNA PCR2-3 DaysPeripheral bloodEDTA vacutainer (2ml)
ID002CMV Quantitative Real Time PCR3-4 DaysPeripheral bloodEDTA vacutainer (2ml)
ID003HBV DNA PCR (Qualitative)2-3 DaysPeripheral bloodEDTA vacutainer (2ml)
ID004HBV Genotyping (Sequencing Method)3-4 DaysPeripheral bloodEDTA vacutainer (2ml)
ID005HBV Quantitative Real Time PCR3-4 DaysPeripheral bloodEDTA vacutainer (2ml)
ID006HCV Genotyping (Sequencing Method)3-4 DaysPeripheral bloodEDTA vacutainer (2ml)
ID007HCV Quantitative Real Time PCR3-4 DaysPeripheral bloodEDTA vacutainer (2ml)
ID008HCV RNA PCR (Qualitative)2-3 DaysPeripheral bloodEDTA vacutainer (2ml)
ID009Hepatitis A Virus RNA RT-PCR(HAV)3-4 DaysPeripheral bloodEDTA vacutainer (2ml)
ID010Herpes Simplex2-3 DaysPeripheral bloodEDTA vacutainer (2ml)
ID011Human Papilloma Virus (HPV) with LBC2-3 DaysPeripheral bloodEDTA vacutainer (2ml)
ID012TB DNA PCR Qualitative (Real Time PCR)1-2 DaysPeripheral bloodEDTA vacutainer (2ml)
ID013HIV Proviral DNA PCR 2-3 DaysPeripheral bloodEDTA vacutainer (2ml)
ID014HIV-1 Quantitative Real Time PCR3-4 DaysPeripheral bloodEDTA vacutainer (2ml)
ID015HIV Genotyping 10-15 days`Peripheral bloodEDTA vacutainer (2ml)

Microarray Analysis

Test CodeTestSample typeTAT
MC001Chromosomal Micaroarray Analysis (array CGH) 8X60kAmniotic Fluid15days
(20ml)
MC003Chromosomal Micaroarray Analysis (array CGH) 8X60kPeripheral Blood15days
(4ml in EDTA vaccutainer)
MC006Array CGH + SNP analysisAll type of Biological samples30days

NEXT GENERATION SEQUENCING BASED Analysis

Test CodeTestSample typeTAT
NEUROLOGY
NG013Neurology PanelEDTA Blood/Tissue4-5 weeks
NG014Muscular Dystrophy and Myopathy PanelEDTA Blood/Tissue4-5 weeks
NG015Mitochondrial PanelEDTA Blood/Tissue4-5 weeks
CLINICAL EXOME  TEST
NG016Clinical Exome Test covers 4800 genes associated with known clinical phenotypesSaliva sample/EDTA Blood/Tissue8 - 10 weeks

Package Genetic Diagnosis

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

Clinical Services

Research Services

Share Your Queries With Our Experts Now!