Test Code | D4566 | |
Test Summary | This comprehensive test analyzes genes associated with glycogen storage diseases and disorders included in their differential diagnoses. |
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Turn-Around-Time (TAT)* | 2 - 3 weeks | |
Acceptable Sample Types | Whole Blood (EDTA) DNA, Isolated Dried Blood Spots Saliva |
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Acceptable Billing Types |
Self (patient) Payment Institutional Billing
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NY Approved | No | |
Self (patient) Price | $550.00 | |
Institutional Price | $950.00 | |
CPT Codes** | 81479 (x1), 81443 (x1) |
This comprehensive panel includes genes associated with all glycogen storage diseases and disorders included in their differential diagnoses:
- Carnitine Palmitoyl Transferase II Deficiency
- Fructose-1,6-Bisphosphatase Deficiency
- Gaucher Disease
- Glycogen Storage Disorder Type 0
- Glycogen Storage Disorder Type IA, IB, IC
- Glycogen Storage Disorder Type II
- Glycogen Storage Disorder Type IIIA, IIIB
- Glycogen Storage Disorder Type IV
- Glycogen Storage Disorder Type IXA, IXB, IXC
- Glycogen Storage Disorder Type V
- Glycogen Storage Disorder Type VI
- Glycogen Storage Disorder Type VII
- Glycogen Storage Disorder Type VIII
- Glycogen Storage Disorder Type X
- Hereditary Fructose Intolerance
- HyperCKemia
- Lethal Congenital Glycogen Storage Disease of the Heart
- Mitochondrial Myopathy
- Mitochondrial Trifunctional Protein Deficiency
- Muscle Glycogenosis
- Myodenylate Deaminase Deficiency Type 1
- Niemann Pick Type B
- Phosphorylase B Kinase Deficiency
- Pompe Disease
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
EDTA (purple top)
Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.
Clotted or hemolyzed samples are not accepted.
Required DNA Quantity by Test Type*:
- Next Generation Sequencing (NGS): Send >1000 ng total gDNA @ >15 ng/μL. Please ship samples in 10mM Tris. Do not use EDTA.
- Sanger Sequencing: Send >500 ng total gDNA @ >15 ng/μL (varies by the size of the gene and the variants requested).
- Non-Sanger Sequencing Tests: Send >500 ng total gDNA @ >15 ng/μL.
- Research Laboratories: DNA extracted in research laboratories is not acceptable. Only under exceptional circumstances (e.g., proband not available) will DNA extracted in a research laboratory be accepted for clinical testing. Additional testing (e.g., of other family members) may be required to confirm results.
- Laboratories outside the United States: Non-US laboratories are not subject to CLIA regulations and will be reviewed on a case-by-case basis. Please call to speak with a laboratory genetic counselor before submitting a DNA sample from any non-CLIA-certified laboratory.
- Special Notes: If extracted DNA is submitted, information regarding the method used for extraction should be sent along with the sample.
Dried blood spot card
Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.
- NBS: Please contact Revvity Omics to request the StepOne® kit.
- Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
- For pre-punched DBS: The required minimum is 6 punches
Oragene™ Saliva Collection Kit or ORAcollect-Dx kit
Collect saliva on an Oragene™ Saliva Collection Kit ORAcollect-Dx kit according to the manufacturer’s instructions.
Please contact Revvity Omics to request the saliva collection kit for patients who cannot provide a blood sample as whole blood is the preferred sample. Testing using Saliva swabs is currently not available for customers in India. Contact the Revvity Omics laboratory for more information.