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 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 |