Curated condition-specific panel for muscular dystrophy using genome sequencing-based method, providing full gene sequencing and analysis of targeted genes
|Turn-Around-Time (TAT)*||4 weeks|
|Acceptable Sample Types||
Whole Blood (EDTA)
Dried Blood Spots
|Acceptable Billing Types||
Self (patient) Payment
|Self (patient) Price||$2000.00|
|CPT Codes**||81479 (x2), 81312 (x1), 81443 (x1)|
- Genetically heterogeneous disease caused by likely pathogenic/pathogenic findings in multiple genes
- Condition suggestive of a genetic disorder with a long differential diagnosis list
- Unclear or atypical presentation of a genetic disorder
- Previous genetic testing did not yield a diagnosis, including exome sequencing
This panel may help identify or be used for a better understanding of the following conditions:
- Congenital Muscular Dystrophies
- Emery-Dreifuss muscular dystrophy
- Epidermolysis bullosa simplex with muscular dystrophy
- Facioscapulohumeral muscular dystrophy 2
- Glycogen storage disease type II, Pompe disease
- LAMA2-related muscular dystrophy
- Limb-Girdle muscular dystrophy
- Myotonic dystrophy
- Neutral lipid storage disease with myopathy
- Oculopharyngeal muscular dystrophy
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 prior to 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 card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.
- NBS: Please contact PKIG to request the StepOne® kit.
- Gene Sequencing: Please contact PKIG to request the DBS collection kit.
- For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
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 PerkinElmer to request the saliva collection kit for patients that cannot provide a blood sample as whole blood is the preferred sample.