Comprehensive Dystonia + mtDNA + HTT Repeat Expansion Analysis
|TEST METHODOLOGY||NGS; Repeat Primed-PCR|
|TAT (TURNAROUND TIME)||2 - 4 weeks|
|CPT CODE||81460, 81465, 81479 x2, 81404 x2, 81405 x2, 81406|
|RECOMMENDED MNG KITS||
Dystonia is a neurological movement disorder. It is characterized by persistent or intermittent muscle contractions causing abnormal, often repetitive movements, or body postures. The movements are usually patterned and twisting, and may resemble a tremor. Dystonia can affect one part of the body or can be generalized across multiple muscle groups. There are multiple forms of dystonia, and many conditions may include dystonia as a symptom.
Dystonia can be classified as ‘isolated’ if dystonia is the only motor feature other than tremor, ‘combined’ if dystonia occurs with another movement disorder (myoclonus, or parkinsonism), or ‘complex’ if dystonia is one of other neurologic or systemic manifestations. Forms of dystonia without neurodegeneration usually reach a plateau with stable findings, whereas those associated with neuronal loss progressively worsen over time.
The mode of inheritance can be autosomal dominant, autosomal recessive, X-linked, or mitochondrial. This next-generation sequencing test is designed to detect mutations in the coding region of several genes associated with Dystonia or syndromes with dystonic features.
|Acceptable Sample Types||
|Sample Preparation:||(1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80°Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.|
|Shipping Condition:||MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).|