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MetabolicsRef® 138 genes related to metabolic diseases

Test Code

55435

Gene/s
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138 gens

Specific Gene

ABCC8, ABCD1, ABCG5, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGL, AGXT, AHCY, AKR1D1, ALDH4A1, ALDH7A1, ALDOB, ALPL, AQP2, ARG1, ARSB, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, CBS, CPS1, CPT1A, CPT2, CTH, CTNS, CYP27A1, DBT, DLD, DNAJC19, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FOLR1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GCDH, GCH1, GLA, GLB1, GLIS3, GLUD1, GNMT, GRHPR, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAL, HGD, HLCS, HMGCL, HMGCS2, HNF4A, HOGA1, HPD, HSD17B10, HSD3B7, IDS, IDUA, IGSF1, IVD, KCNJ11, LAMP2, LDLR, LHX3, LIPA, LMBRD1, LPL, MAT1A, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MPI, MTR, MTRR, MTTP, MVK, NAGS, NPC1, OAT, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PHGDH, PKLR, PNPO, PRODH, PROP1, PTS, PYGL, QDPR, SCN1A, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC2A1, SLC37A4, SLC3A1, SLC7A7, SLC7A9, SMPD1, SPR, SURF1, TAT, TAZ, TCN2, TH

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

5 mL whole blood (EDTA). It´s necessary to send us the clinical and family history.

TAT

30 days

Omim G

Omim F

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