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Mitochondrial Disorders (121 Nuclear Genes by Sequencing, 119 Nuclear Genes by Deletion/Duplication)

CPT Code(s): 81440
Specimen Required: Patient Preparation:
Collect:Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B). Peripheral blood required.
Specimen Preparation:Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature:Refrigerated.
Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Aliases:
  • ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, CABC1, COQ2, COQ9, COX10, COX15COX4I2, COX6B1, CPT1A, CPT2, CYCS, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FASTKD2, FH, FXN, GFER, GFM1HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, LARS2, ISCU, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2Mitochondrial disorders nuclear genes sequencing and deletion/duplication assaymtDNA disorders nuclear genes sequencing and deletion/duplication assaNDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1Nuclear genes sequencing and deletion/duplicationPC, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHAF1, SDHB, SDHC, SDHDProgressive external ophthalmoplegia (PEO)SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TIMM8A, TK2TMEM70, TMPO, TRMU,TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS
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