3-Methylglutaconic Aciduria Panel, Varies
Use
The 3-methylglutaconic acidurias (3-MGA) are a heterogeneous group of metabolic conditions characterized by increased urinary excretion of 3-MGA. Primary 3-MGA type I is an organic aciduria caused by defective leucine catabolism due to variants in 3-methylglutaconyl-CoA hydratase. Four more types of 3-MGA have been described where 3-MGA is a consistent feature. These are characterized by various degrees of mitochondrial dysfunction, very remotely, if at all, linked to leucine degradation and include Barth syndrome (type II), Costeff syndrome (type III), and type V or dilated cardiomyopathy with ataxia syndrome. The remaining cases (type IV) with increased 3-MGA encompass a variety of disorders affecting mitochondrial function. Genes known to be associated with elevations of 3-MGA are included on this panel.
Special Instructions
For skin biopsy or cultured fibroblast specimens, fibroblast culture testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified. For any prenatal specimen that is received, maternal cell contamination testing will be performed at an additional charge. It may also be performed for postnatal umbilical cord whole blood specimens at an additional charge.
Limitations
Next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false-positive results may occur. The depth of coverage may be variable for some target regions; assay performance below the minimum acceptable criteria or for failed regions will be noted. Given these limitations, negative results do not rule out the diagnosis of a genetic disorder. If a specific clinical disorder is suspected, evaluation by alternative methods can be considered.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105342-0
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
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.
Storage Instructions
Specimens are preferred to be received within 4 days of collection.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |