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LYSOSOMAL AND PEROXISOMAL DISORDERS , PANEL MASSIVE SEQUENCING (NGS) 85 GENES
| Test Code |
55139 |
|---|---|
| Gene/s |
See all genes ![]() Hide all genes ![]() 85 gens |
| Specific Gene |
ACOX1, AGA, AGPS, AGXT, AGXT2, 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 |
| Analysis Methods |
Massive sequencing data analysis (NGS) |
| Sample Requirements |
5 mL whole blood (EDTA). Necessary clinical and family history. |
| TAT |
30 days |
| Omim G |
– |
| Omim F |
– |
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