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 |
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