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Paediatrics and Paediatric Endocrinology

Test No. Test Name Analytical Technique Sample required TAT
ENDMET188 Russell-Silver/ Beckwith-Weidemann syndrome (chromosome 11p15 region) gene dosage and methylation MS-MLPA Blood in EDTA 10 days
PAEMET143 Prader-Willi/ Angelman (15q11 region – gene dosage & methylation) MS-MLPA Blood in EDTA 10 days
PAEMET148 Fragile-X Syndrome (FMR1 – gene dosage & methylation) MS-MLPA Blood in EDTA 10 days
GYNMLP132 Common Aneuploidies (Trisomy 13, 18, 21 + X & Y) MLPA Blood in EDTA 10 days
NEUMLP130 Duchenne Muscular Dystrophy - deletions/ duplications of 79 exons (DMD gene) MLPA Blood in EDTA 10 days
ENDQPC003 Ambiguous Genitalia - rapid resolution (SRY, DYS14) Taqman real time PCR Blood in EDTA 1 day
ENDNGS375 DAX1/ NR0B1 gene sequencing for Congenital Adrenal Hypoplasia NGS Blood in EDTA 4-5 weeks
ENDMLP010 Congenital Adrenal Hyperplasia - deletions/ large rearrangements in CYP21A2 MLPA Blood in EDTA 10 days
ENDNGS011 Congenital Adrenal Hyperplasia (CAH) - full gene sequencing of CYP21A2 NGS Blood in EDTA 4-5 weeks
ENDNGS404 Congenital Adrenal Hyperplasia (CAH) - HSD3B2 (exons 1 and 2) by NGS NGS Blood in EDTA 4-5 weeks
ENDMLP025 Osteogenesis Imperfecta - gene dosage (COL1A1 + COL1A2) MLPA Blood in EDTA 10 days
ENDQPC028 Achondroplasia common mutation study (FGFR3 G380R - G1138A/C) ARMS real time PCR Blood in EDTA 2 days
ENDNGS151 Achondroplasia (FGFR3 G380R-G1138A/C) + Hypochondroplasia (FGFR3 N450K - C1620A/G) common mutations study NGS Blood in EDTA 4-6 weeks
ENDMLP155 SHOX gene analysis for short stature - gene dosage MLPA Blood in EDTA 10 days
ENDNGS156 SHOX full gene sequencing for short stature NGS Blood in EDTA 4-5 weeks
PAEMLP201 Spinal Muscular Atrophy (SMA) - SMN1, SMN2 deletion, duplication MLPA Blood in EDTA 10 days
ENDNGS171 Leptin and MC4R sequencing for Monogenic Obesity NGS Blood in EDTA 4-5 weeks
ENDPCR334 FTO Gene Polymorphism (rs9939609) for Obesity ARMS real time PCR Blood in EDTA 3 days
ENDSEQ172 LMNA gene sequencing for Progeria CE-Seq Blood in EDTA 10 days
ENDQPC145 Vitamin D Receptor (VDR) Polymorphisms (FokI, BsmI) ARMS real time PCR Blood in EDTA/plain 2 days
PAESEQ379 Cystic Fibrosis CFTR del F508 common mutation testing CE-Seq Blood in EDTA 15 days
RARNGS383 Targeted (quantitative mosaic) mutation testing in GNAS gene for McCune-Albright syndrome NGS Blood in EDTA 4-5 weeks
ONCMLP389 MLPA for Von Hippel Lindau (VHL) Syndrome MLPA Blood in EDTA 10 days
NEPSEQ272 Von Hippel Lindau Syndrome (Sequencing of exons 1, 2 and 3 of the VHL gene) CE-Seq Blood in EDTA 2-3 weeks
ONCSEQ399 Targeted sequencing in VHL gene (for family members at risk) CE-Seq Blood in EDTA 2 weeks