NGS analysis - Hereditary spastic paraplegia

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GENE / VARIANT / LOCUS
ABCD1, ADAR, ALDH3A2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP2B4, ATP13A2, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DARS2, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, GAD1, GALC, GBA2, GJC2, GRID2, GRN, HSPD1, IBA57, IFIH1, KCNA2, KIF1A, KIF1C, KIF5A, L1CAM, LYST, MAG, MARS, NIPA1, NT5C2, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, RAB3GAP2, REEP1, REEP2, RNASEH2B, RTN2, SACS, SERAC1, SLC16A2, SLC33A1, SPART, SPAST, SPG7, SPG11, SPG21, TECPR2, TFG, TUBB4A, UCHL1, USP8, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
SPECIALIZATIONS
Neurology / neuropediatrics
METHODOLOGY
TAT (DAYS)
365 calendar days
OMIM CODE (GENE/LOCUS)
OMIM CODE (FENOTYPE)
RefSNP ID
ACCREDITATION
No
SAMPLE REQUIREMENTS
Sample type Volume/Concentration1 Container Transport temperature Sample viability (days/hours)2
Peripheral blood ≥ 3 ml K3/K2 EDTA Room temp. 5
Peripheral blood 1 ml K3/K2 EDTA - newborn Room temp. 5

1 If it is not possible to collect the minimum volume for the test, please contact Unilabs Genetics

2 Maximum shipping time to ensure sample quality

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