Test Code: 2927

3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency: MCCC1/MCCC2 Gene Sequencing
Test Code: 2927
Turnaround time: 6 weeks

Condition description

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency

GENES

MCCC2, MCCC1

INDICATIONS

This test is indicated for:

  • Individuals with clinical and biochemical findings consistent with 3-MCC deficiency.
  • Carrier testing in individuals with a family history of 3-MCC deficiency.

METHODOLOGY

Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient’s genomic DNA. Although some deep intronic regions may also be analyzed, this assay does not analyze most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing.

DETECTION

Clinical Sensitivity:
52/56 mutations identified in 28 patients. 7/8 mutations identified in 4 patients
4/4 mutations identified in 2 patients.

Analytical Sensitivity: ~99%. The majority of patients with clinical and biochemical diagnosis of 3-MCC deficiency will have gene mutations detected by sequence analysis.

SPECIMEN REQUIREMENTS

Submit only 1 of the following specimen types

* Preferred specimen type: Whole Blood

Type: Whole Blood
Specimen Requirements:
In EDTA (purple top) or ACD (yellow top) tube: 3-5 ml

Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.

Type: Saliva
Specimen Requirements:
OrageneTM Saliva Collection kit (available through CEN4GEN) used according to manufacturer instructions.

Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.

RELATED TESTS

• Known Mutation Analysis (test code: 6875).
• 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC): MCCC1/MCCC2 Gene Deletion/Duplication (test code: 6076).