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 Name | Analytical Technique | Sample required | TAT |
| 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 , Antenatal sample | 10 days |
| NEUMLP130 | Duchenne Muscular Dystrophy (deletions/ duplications of 79 exons of dystrophin / DMD gene) | MLPA | Blood in EDTA | 10 days |
| PAEMLP201 | Spinal Muscular Atrophy (SMA) – SMN1, SMN2 deletion, duplication | MLPA | Blood in EDTA | 10 days |
| NEUPCR392 | Myotonic Dystrophy Type I – Triplet Primed PCR (TP-PCR) (DMPK gene) | TP-PCR | Blood in EDTA | 2 weeks |
| RARMLP277 | Intellectual Disability Targeted Copy Number Variation Panel – 1 (common microdeletion/ duplication syndromes) | MLPA | Blood in EDTA | 10 days |
| RARMLP278 | Intellectual Disability Targeted Copy Number Variation Panel – 2 (sub-telomeric regions) | MLPA | Blood in EDTA | 10 days |
| RARMLP279 | 1p36 deletion syndrome | MLPA | Blood in EDTA | 10 days |
| RARMLP280 | 2p16 microdeletion | MLPA | Blood in EDTA | 10 days |
| RARMLP281 | 2q23 microdeletion (MBD5) | MLPA | Blood in EDTA | 10 days |
| RARMLP282 | 2q33 microdeletion (SATB) | MLPA | Blood in EDTA | 10 days |
| RARMLP283 | 3q29 microdeletion | MLPA | Blood in EDTA | 10 days |
| RARMLP284 | 9q22.3 microdeletion | MLPA | Blood in EDTA | 10 days |
| RARMLP285 | 15q24 deletion syndrome | MLPA | Blood in EDTA | 10 days |
| RARMLP286 | 17q21 microdeletion | MLPA | Blood in EDTA | 10 days |
| RARMLP287 | 22q13 (Phelan-McDermid syndrome) | MLPA | Blood in EDTA | 10 days |
| RARMLP288 | 5p15 microdeletion (Cri du Chat syndrome) | MLPA | Blood in EDTA | 10 days |
| RARMLP289 | 22q11 microdeletion (DiGeorge syndrome) | MLPA | Blood in EDTA | 10 days |
| RARMLP290 | Langer-Giedion syndrome | MLPA | Blood in EDTA | 10 days |
| RARMLP291 | 17p microdeletion (Miller-Dieker syndrome) | MLPA | Blood in EDTA | 10 days |
| RARMLP292 | NF1 microdeletion syndrome | MLPA | Blood in EDTA | 10 days |
| RARMLP293 | 15q microdeletion (Prader Willi/ Angelman syndrome) | MLPA | Blood in EDTA | 10 days |
| RARMLP294 | MECP2/ Xq28 duplication | MLPA | Blood in EDTA | 10 days |
| RARMLP295 | Rubinstein-Taybi syndrome | MLPA | Blood in EDTA | 10 days |
| RARMLP296 | Smith-Magenis syndrome | MLPA | Blood in EDTA | 10 days |
| RARMLP297 | 5q35.3 microdeletion (Sotos syndrome) | MLPA | Blood in EDTA | 10 days |
| RARMLP298 | Williams syndrome | MLPA | Blood in EDTA | 10 days |
| RARMLP299 | 4p16.3 microdeletion (Wolf-Hirschhorn syndrome) | MLPA | Blood in EDTA | 10 days |
| NEUNGS357 | Next generation sequencing for Tuberous Sclerosis | NGS | Blood in EDTA | 4-5 weeks |
| NEUNGS358 | Next generation sequencing for Neurofibromatosis | NGS | Blood in EDTA | 4-5 weeks |