Ataxia/Episodic Ataxia Disorders (NGS Panel and Copy Number Analysis + mtDNA)

Blood | Extracted DNA | Cultured Fibroblasts | Muscle | Buccal Cells

Blood: Draw blood in a lavender top EDTA tube, Sample Stability: 5-7 days, Preferred volume: 4 ml, Minimum volume: 2 ml, DO NOT FREEZE. Extracted DNA: From leukocytes, muscle, or fibroblasts: Preferred quantity: 1 microgram, Minimum quantity: 800 nanograms. Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0. Cultured Fibroblasts: Two T-25 flasks of fibroblasts, preferably ~90% confluent. TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80°Celsius or below. Buccal Cells: One buccal swab should be used for collection. Do not discard solution in collection tube. Follow collection instructions supplied. Stability at ambient temperature is 60 days.

Blood: Lavender-Top (EDTA) Tube, Buccal Swab from MNG Kit, Tissue or Extracted DNA: Sterile screw capped vial, Cultured cells: T25 flask

Blood: Specimens should be shipped overnight in a secure container at room temperature. Extracted DNA: Should be shipped overnight at room temperature. If previously frozen, DNA can be shipped in an insulated container with wet or dry ice. Cultured Fibroblasts: 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 (TC05). For NGS panels, TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: Samples should be shipped frozen in an insulated container with 5-7 lbs. dry ice, overnight. Buccal cells: Should be shipped overnight in a secure container at room temperature.

Blood - ship ASAP, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE; Swab - 60 day post-collection room temperature stability; DNA - ship at room temperature after extraction; Fibroblasts - ship flask in insulated container at room temp or refigerated; Muscle - ship in insulated container with 5-7 lbs of dry ice

Room Temperature: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Refrigerated: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Frozen: Blood - DO NOT FREEZE, Swab - 60 days, DNA - Indefinitely, Muscle - Indefinitely, Fibroblasts - Indefinitely; Freeze/Thaw: None

Extracted DNA A260:A280 ratio of outside of 1.8-2.0 range; Frozen blood EDTA tube; Thawed and/or fatty muscle sample; Insufficient buccal cell collection

The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait, and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. Inherited (genetic) forms of ataxia must be distinguished from the many acquired (non-genetic) causes of ataxia. The hereditary ataxias can be inherited in an autosomal dominant (AD), autosomal recessive (AR), X-linked, or mitochondrial manner, and multiple genes are involved. Early-onset ataxias, under 20 years of age, tend to be of autosomal recessive inheritance (e.g. Friedreich’s ataxia) whereas the spinocerebellar ataxias (SCAs) are autosomal dominant and tend to present mostly after 20 years of age; although both recessive and dominant can occur at any age. The prevalence of genetic childhood ataxia varies from 0.1 to 10 cases per 100,000 people. Ataxias due to mitochondrial disease may be an under-diagnosed cause of ‘inherited’ ataxia, but the pattern of inheritance may be complex, including maternal transmission, AD and AR inheritance. The diagnosis of hereditary ataxia is based upon detection and neurologic examination of typical clinical signs and symptoms, a positive family history, and molecular analysis. Hereditary ataxias can be subdivided first by mode of inheritance, and secondarily by the gene in which the pathogenic variants occur.

Next-Generation Sequencing

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing