Book online for a Covid-19 test at our drive-up center

Neurology and Paediatric Neurology

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