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 |
Use left/right arrows to navigate the slideshow or swipe left/right if using a mobile device