GeneDx :: Tests :: Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency)

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Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency)

HLCS gene

Holocarboxylase Synthetase (HLCS) Deficiency (or Multiple Carboxylase Deficiency) is a rare disorder of biotin metabolism. Most patients with HLCS deficiency present with symptoms in the newborn to early infantile period that include metabolic acidosis and organic aciduria, irritability, lethargy, hypotonia, seizures, coma, developmental delay and dermatitis. Nearly all patients with HLCS deficiency respond to biotin administration; however, patients may differ in the level of responsiveness to biotin.

Using genomic DNA, bi-directional sequence of the coding region and splice junctions of the HLCS gene is analyzed. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.

Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options

HLCS deficiency, HCS, pyruvate carboxylase, propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, acetyl-CoA carboxylase, 3-hydroxyisovalerate, 3-methylcrotonylglycine, 3-hydroxypropionate, methylcitrate, lactate, biotin, biotinidase, biotinidase deficiency, MCD, newborn screening