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HelpTest ID: GA2P Glutaric Aciduria Type II Gene Panel, Varies
Ordering Guidance
The recommended first-tier tests to screen for glutaric acidemia Type II (GA II) are a combination of biochemical tests including acylcarnitine profile in plasma and urine organic acids. Order ACRN / Acylcarnitines, Quantitative, Plasma and OAU / Organic Acids Screen, Urine. In addition to elevations in glutaric acid, individuals with GA II can also show increased ethylmalonic acid (EMA), methylsuccinic acid (MSA), and 2-hydroxyglutaric acid (2OH-GA).
Customization of this panel and single gene analysis for any gene present on this panel is available. For more information see CGPH/ Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4days /Refrigerated 14 days
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Cultured fibroblast
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.
Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Blood spot
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Collection card (Whatman Protein Saver 903 Paper)
Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) filter paper or blood spot collection card
Specimen Volume: 5 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information:
1. Due to lower concentration of DNA yielded from blood spot, it is possible that additional specimen may be required to complete testing.
2. For collection instructions, see Blood Spot Collection Instructions
3. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
4. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient 30 days
Additional Information: Due to lower concentration of DNA yielded from saliva, it is possible that additional specimen may be required to complete testing.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions
Useful For
Follow up for abnormal biochemical results suggestive of glutaric acidemia type II
Establishing a molecular diagnosis for patients with glutaric acidemia type II
Identifying variants within genes known to be associated with glutaric acidemia, allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 8 genes associated with glutaric aciduria: ETFA, ETFB, ETFDH, FLAD1, SLC52A1, SLC52A2, SLC52A3, TANGO2. See Targeted Genes and Methodology Details for Glutaric Aciduria Type II Gene Panel in Special Instructions and Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for glutaric aciduria type II.
Additional first-tier testing may be considered/recommended. For more information see Ordering Guidance.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
Glutaric Aciduria Type 2 Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Glutaric acidemia Type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is caused by defects in either the electron transfer flavoprotein (ETF) or ETF-ubiquinone oxidoreductase. This disease can be severe and is often fatal in the first weeks of life, with symptoms including hypoglycemia, muscle weakness, metabolic acidosis, dysmorphic features, cardiac defects or arrhythmias, renal cysts, and fatty infiltration of the liver. GA II can have a milder presentation, also known as ethylmalonic-adipic aciduria, with Reye-like illnesses in childhood and muscle weakness in childhood and adulthood. Three genes have been implicated in causing GA II: ETFA, ETFB, and ETFDH. This comprehensive gene panel is a helpful tool to establish a diagnosis for patients with suggestive clinical and biochemical features of GA II.
Reference Values
An interpretive report will be provided.
Interpretation
All detected alterations are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424
2. Frerman FE, Goodman SI: Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: Glutaric acidemia type II. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed December 20, 2019. Available at www.ommbid.com
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81479
88233-Tissue culture, skin, solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| GA2P | Glutaric Aciduria Type 2 Gene Panel | 105354-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 608752 | Test Description | 62364-5 |
| 608753 | Specimen | 31208-2 |
| 608754 | Source | 31208-2 |
| 608755 | Result Summary | 50397-9 |
| 608756 | Result | 82939-0 |
| 608757 | Interpretation | 69047-9 |
| 608758 | Resources | 99622-3 |
| 608759 | Additional Information | 48767-8 |
| 608760 | Method | 85069-3 |
| 608761 | Genes Analyzed | 48018-6 |
| 608762 | Disclaimer | 62364-5 |
| 608763 | Released By | 18771-6 |
Day(s) Performed
Varies
Report Available
28 to 42 daysReflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm
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.
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