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Test ID: CLADP    
Congenital Lactic Acidosis Panel, Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

Follow up for abnormal biochemical results suggestive of congenital lactic acidosis

 

Establishing a molecular diagnosis for patients with congenital lactic acidosis

 

Identifying variants within genes known to be associated with congenital lactic acidosis, allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test utilizes next-generation sequencing (NGS) to detect single nucleotide and copy number variants in 28 genes associated with congenital lactic acidosis: ACAD9, AGK, DLD, ECHS1, FBXL4, FLAD1, FOXRED1, GFER, HADHA, HADHB, HLCS, MRPL3, MRPS22, NDUFB11, NDUFS4, OGDH, PC, PDHA1, PDHX, PDP1, SLC19A2, SLC19A3, SLC25A19, SUCLG1, TMEM70, TPK1, UQCRC2, VARS2.

 

See Targeted Genes and Methodology Details for Congenital Lactic Acidosis Panel in Special Instructions and Method Description for additional details.

 

Additionally, mitochondrial genome sequencing including amplification of the entire mitochondrial genome by long-range polymerase chain reaction (LRPCR) followed by sequencing on the NGS platform is included to evaluate for variants within the mitochondrial genome.

 

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for disorders causing congenital lactic acidosis.

 

Additional first tier testing may be considered/recommended. For more information see Ordering Guidance.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing/Long-Range Polymerase Chain Reaction (L-RPCR) followed by Next-Generation Sequencing (NGS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

No

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Congenital Lactic Acidosis Panel

Aliases Lists additional common names for a test, as an aid in searching

NextGen Sequencing Test
Combined oxidative phosphorylation deficiency
Dihydrolipoamide dehydrogenase deficiency
Mitochondrial DNA depletion syndrome
Mitochondrial complex I deficiency
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase deficiency
Mitochondrial complex V deficiency
Mitochondrial complex III deficiency