Methylmalonic Aciduria Gene Panel, Varies
Use
This test is utilized for detecting single nucleotide and copy number variants in 25 genes associated with methylmalonic aciduria (MMA). It aids in the molecular diagnosis for patients with suspected MMA based on biochemical results and is significant for identifying variants in genes associated with this condition, which allows for predictive testing of at-risk family members. The identification of a pathogenic variant can assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for MMA.
Special Instructions
Not provided.
Limitations
Next-generation sequencing (NGS) may not detect all types of genomic variants. Technical limitations include regions of homology, high guanine-cytosine content, and repetitive sequences. False-negative or false-positive results may occur, and the depth of coverage may be variable for some target regions. This test is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp. The analysis targets deletions/duplications but may not achieve single exon resolution in some instances. The test may not detect low levels of mosaicism or differentiate somatic mutations from germline variants. Variants classified as benign are not reported.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105347-9 - Methylmalonate acid multi anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |