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Neurology and Paediatric Neurology

Test applicable to Individuals who fall in one or more of the categories mentioned below.
1. Children with a suspected or diagnosed genetic condition.
2. Families with history of suspected genetic disorder.
3. Children who have birth defects including structural abnormalities, metabolic disorders etc.

Test No.Test NameAnalytical TechniqueSample requiredTAT
PAEMET143Prader-Willi/ Angelman (15q11 region – gene dosage & methylation)MS-MLPABlood in EDTA10 days
PAEMET148Fragile-X Syndrome (FMR1 – gene dosage & methylation)MS-MLPABlood in EDTA10 days
GYNMLP132Common Aneuploidies (Trisomy 13, 18, 21 + X & Y)MLPABlood in EDTA , Antenatal sample10 days
NEUMLP130Duchenne Muscular Dystrophy (deletions/ duplications of 79 exons of dystrophin / DMD gene)MLPABlood in EDTA10 days
PAEMLP201Spinal Muscular Atrophy (SMA) – SMN1, SMN2 deletion, duplicationMLPABlood in EDTA10 days
NEUPCR392Myotonic Dystrophy Type I – Triplet Primed PCR (TP-PCR) (DMPK gene)TP-PCRBlood in EDTA2 weeks
RARMLP277Intellectual Disability Targeted Copy Number Variation Panel – 1 (common microdeletion/ duplication syndromes)MLPABlood in EDTA10 days
RARMLP278Intellectual Disability Targeted Copy Number Variation Panel – 2 (sub-telomeric regions)MLPABlood in EDTA10 days
RARMLP2791p36 deletion syndromeMLPABlood in EDTA10 days
RARMLP2802p16 microdeletionMLPABlood in EDTA10 days
RARMLP2812q23 microdeletion (MBD5)MLPABlood in EDTA10 days
RARMLP2822q33 microdeletion (SATB)MLPABlood in EDTA10 days
RARMLP2833q29 microdeletionMLPABlood in EDTA10 days
RARMLP2849q22.3 microdeletionMLPABlood in EDTA10 days
RARMLP28515q24 deletion syndromeMLPABlood in EDTA10 days
RARMLP28617q21 microdeletionMLPABlood in EDTA10 days
RARMLP28722q13 (Phelan-McDermid syndrome)MLPABlood in EDTA10 days
RARMLP2885p15 microdeletion (Cri du Chat syndrome)MLPABlood in EDTA10 days
RARMLP28922q11 microdeletion (DiGeorge syndrome)MLPABlood in EDTA10 days
RARMLP290Langer-Giedion syndromeMLPABlood in EDTA10 days
RARMLP29117p microdeletion (Miller-Dieker syndrome)MLPABlood in EDTA10 days
RARMLP292NF1 microdeletion syndromeMLPABlood in EDTA10 days
RARMLP29315q microdeletion (Prader Willi/ Angelman syndrome)MLPABlood in EDTA10 days
RARMLP294MECP2/ Xq28 duplicationMLPABlood in EDTA10 days
RARMLP295Rubinstein-Taybi syndromeMLPABlood in EDTA10 days
RARMLP296Smith-Magenis syndromeMLPABlood in EDTA10 days
RARMLP2975q35.3 microdeletion (Sotos syndrome)MLPABlood in EDTA10 days
RARMLP298Williams syndromeMLPABlood in EDTA10 days
RARMLP2994p16.3 microdeletion (Wolf-Hirschhorn syndrome)MLPABlood in EDTA10 days
NEUNGS357Next generation sequencing for Tuberous SclerosisNGSBlood in EDTA4-5 weeks
NEUNGS358Next generation sequencing for NeurofibromatosisNGSBlood in EDTA4-5 weeks
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