Lysosomal storage diseases and peroxisomal disorders (84-gene panel, NGS)
Code: 3329
The availability and turnaround time of this test should be confirmed with the unit before collection.
- Method
- Next-generation sequencing (NGS)
- Collection requirements
- EDTA: Blood (10 mL)
- Sample stability
- Refrigerated at 2-8 °C
- Turnaround time
- 33 working days
- Preparation and notes
- IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday. Clinical history and family history are mandatory.
Genes tested
Genes: ACOX1, AGA, AGPS, AGXT, AMACR, AP3B1, ARSA, ARSB, ASAH1, CAT, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DNM1L, FAR1, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPAT, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HSD17B4, HYAL1, IDS, IDUA, LAMP2, LIPA, LMBRD1, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, MLPH, MYO5A, NAGA, NAGLU, NAGPA, NEU1, NPC1, NPC2, NPR2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PPT1, PSAP, RAB27A, SCP2, SGSH, SLC17A5, SMPD1, SUMF1, TPP1, TRIM37