• Test Code:
    2390
  • Department:
  • Test Synonyms:
    ATP5EATPAF2BCS1LCOX10COX15COX4I1COX4I2COX6B1COX7A1DLATDLDFASTKD2FOXRED1LRPPRCNDUFA1NDUFA10NDUFA11NDUFA13NDUFA2NDUFA7NDUFA8NDUFAF1NDUFAF2NDUFAF3NDUFAF4NDUFAF5NDUFB6NDUFS1 NDUFS2NDUFS3NDUFS4NDUFS5NDUFS6NDUFS7NDUFS8NDUFV1NDUFV3NUBPLPDHA1PDHBPDHXPDP1SCO1SCO2SDHASDHAF1SDHAF2SDHBSDHCSDHDSURF1TACO1TMEM70TTC19UQCRBUQCRQ
  • CPT Code(s):
    81404x581405x1181406x781479x33
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:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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