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 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)