Molecular Genetics
Respiratory Chain Deficiency Panel
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Test Code:
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Department:
Molecular Genetics
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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
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CPT Code(s):
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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
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.
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
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