Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency

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 […]

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.

Tests Available

HLCS Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
HLCS
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
320
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 277.8: Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Suzuki et al. (2005) Hum Mutat 26:285-290
  2. Santer et al. (2003) Mol Genet Metab 79:160-166
  3. Yang et al (2001) Hum Genet 109:526-534
  4. Dupuis et al. (1996) Hum Mol Genet 5:1011-1016

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