Disorders

Biotinidase Deficiency

Synonym(s): Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency

GeneReview OMIM

Gene	Locus	Protein
BTD	3p25	Biotinidase

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte • Enzyme assay
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte • Enzyme assay
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Analyte
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA	• Analyte
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Enzyme assay
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Enzyme assay
Henry Ford Hospital, DNA Diagnostic Laboratory - Detroit, MI, USA
Intergen Genetics Centre - Ankara, Turkey	• Sequence analysis of select exons
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte • Enzyme assay
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte • Enzyme assay
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Sequence analysis of select exons
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Targeted mutation analysis • Analyte • Enzyme assay
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA	• Enzyme assay
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA	• Analyte
Sandor Proteomics Pvt. Ltd - Hyderabad, India	• Enzyme assay
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Enzyme assay
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Enzyme assay
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA	• Enzyme assay
Tulane University School of Medicine, Tulane Biochemical Genetics Laboratory - New Orleans, LA, USA	• Enzyme assay
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Targeted mutation analysis • Analyte • Enzyme assay
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA	• Analyte
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA	• Enzyme assay
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA	• Analyte
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA	• Analyte • Enzyme assay
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA

^* 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.