• Test Code:
    2390
  • Department:
    Molecular Genetics
  • Test Synonyms:
    ATP5E • ATPAF2 • BCS1L • COX10 • COX15 • COX4I1 • COX4I2 • COX6B1 • COX7A1 • DLAT • DLD • FASTKD2 • FOXRED1 • LRPPRC • NDUFA1 • NDUFA10 • NDUFA11 • NDUFA13 • NDUFA2 • NDUFA7 • NDUFA8 • NDUFAF1 • NDUFAF2 • NDUFAF3 • NDUFAF4 • NDUFAF5 • NDUFB6 • NDUFS1 • NDUFS2 • NDUFS3 • NDUFS4 • NDUFS5 • NDUFS6 • NDUFS7 • NDUFS8 • NDUFV1 • NDUFV3 • NUBPL • PDHA1 • PDHB • PDHX • PDP1 • SCO1 • SCO2 • SDHA • SDHAF1 • SDHAF2 • SDHB • SDHC • SDHD • SURF1 • TACO1 • TMEM70 • TTC19 • UQCRB • UQCRQ
  • CPT Code(s):
    81404x5 • 81405x11 • 81406x7 • 81479x33
Background:

ATP synthesis is driven by complex molecular machinery within the mitochondria. The enzymes within the respiratory chain are the key components for energy production. Detrimental effects occur when deleterious genetic defects occur within this process whose group of disorders are known as respiratory chain deficiency and can be sub-categorized into complex I, II, III, IV or V deficiencies. These disorders affect the nuclear encoded genes and have a range of clinical phenotypes including seizures, movement disorders, failure to thrive, and developmental delay. These conditions are inherited in an autosomal dominant, recessive or X-linked manner.  This next-generation sequencing test targets the coding regions for 56 clinically significant genes associated with respiratory chain disorders.

Reasons for Referral:

  • Confirmation of a clinical diagnosis
  • Positive family history
  • Carrier testing

Methodology:

Next generation sequencing will analyze the exons or coding regions of 56 genes associated with Respiratory Chain Deficiency using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

Respiratory Chain Deficiency (56 genes): ATP5E, ATPAF2, BCS1L, COX10, COX15, COX4I1, COX4I2, COX6B1, COX7A1, DLAT, DLD, FASTKD2, FOXRED1, LRPPRC, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, NUBPL, PDHA1, PDHB, PDHX, PDP1, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SURF1, TACO1, TMEM70, TTC19, UQCRB, UQCRQ

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info:

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