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Paediatrics and Paediatric Endocrinology​

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
ENDMET188Russell-Silver/ Beckwith-Weidemann syndrome (chromosome 11p15 region) gene dosage and methylationMS-MLPABlood in EDTA10 days
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 EDTA10 days
NEUMLP130Duchenne Muscular Dystrophy – deletions/ duplications of 79 exons (DMD gene)MLPABlood in EDTA10 days
ENDQPC003Ambiguous Genitalia – rapid resolution (SRY, DYS14)Taqman real time PCRBlood in EDTA1 day
ENDNGS375DAX1/ NR0B1 gene sequencing for Congenital Adrenal HypoplasiaNGSBlood in EDTA4-5 weeks
ENDMLP010Congenital Adrenal Hyperplasia – deletions/ large rearrangements in CYP21A2MLPABlood in EDTA10 days
ENDNGS011Congenital Adrenal Hyperplasia (CAH) – full gene sequencing of CYP21A2NGSBlood in EDTA4-5 weeks
ENDNGS404Congenital Adrenal Hyperplasia (CAH) – HSD3B2 (exons 1 and 2) by NGSNGSBlood in EDTA4-5 weeks
ENDMLP025Osteogenesis Imperfecta – gene dosage (COL1A1 + COL1A2)MLPABlood in EDTA10 days
ENDQPC028Achondroplasia common mutation study (FGFR3 G380R – G1138A/C)ARMS real time PCRBlood in EDTA2 days
ENDNGS151Achondroplasia (FGFR3 G380R-G1138A/C) + Hypochondroplasia (FGFR3 N450K – C1620A/G) common mutations studyNGSBlood in EDTA4-6 weeks
ENDMLP155SHOX gene analysis for short stature – gene dosageMLPABlood in EDTA10 days
ENDNGS156SHOX full gene sequencing for short statureNGSBlood in EDTA4-5 weeks
PAEMLP201Spinal Muscular Atrophy (SMA) – SMN1, SMN2 deletion, duplicationMLPABlood in EDTA10 days
ENDNGS171Leptin and MC4R sequencing for Monogenic ObesityNGSBlood in EDTA4-5 weeks
ENDPCR334FTO Gene Polymorphism (rs9939609) for ObesityARMS real time PCRBlood in EDTA3 days
ENDSEQ172LMNA gene sequencing for ProgeriaCE-SeqBlood in EDTA10 days
ENDQPC145Vitamin D Receptor (VDR) Polymorphisms (FokI, BsmI)ARMS real time PCRBlood in EDTA/plain2 days
PAESEQ379Cystic Fibrosis CFTR del F508 common mutation testingCE-SeqBlood in EDTA15 days
RARNGS383Targeted (quantitative mosaic) mutation testing in GNAS gene for McCune-Albright syndromeNGSBlood in EDTA4-5 weeks
ONCMLP389MLPA for Von Hippel Lindau (VHL) SyndromeMLPABlood in EDTA10 days
NEPSEQ272Von Hippel Lindau Syndrome (Sequencing of exons 1, 2 and 3 of the VHL gene)CE-SeqBlood in EDTA2-3 weeks
ONCSEQ399Targeted sequencing in VHL gene (for family members at risk)CE-SeqBlood in EDTA2 weeks
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