Disorders

Holocarboxylase Synthetase Deficiency

Synonym(s): Biotin Holocarboxylase Synthetase Deficiency, Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency, Early-Onset Combined Carboxylase Deficiency, Early-Onset Multiple Carboxylase Deficiency, Infantile Multiple Carboxylase Deficiency

OMIM

Gene	Locus	Protein
HLCS	21q22.1	Biotin--protein ligase

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• Analyte
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Enzyme assay
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA	• Analyte
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Analyte
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA	• Analyte • Enzyme assay
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA	• Analyte

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.