Autosomal dominant trinucleotide repeats expansions in the HTT gene have been associated with Huntington disease. The penetrance of Huntington disease is associated with the length of trinucleotide repeats. The scope of this assay is limited to repeat expansion analysis of this gene and may not reveal the exact number of repeats present in large expansions.

5-7 weeks

NGS

EDTA Blood ,DNA

1

Pathogenic repeat expansion analyses focus on trinucleotide (CGG) repeat expansions within the 5′ untranslated region of the FMR1 gene, which is the most common cause of Fragile X Syndrome. Repeat expansions in the premutation size range are the only known cause of Fragile X-associated tremor/ataxia syndrome and Fragile X-associated primary ovarian insufficiency. Analyzing repeat expansions in the FMR1 gene can help confirm clinical diagnoses, predict disease prognosis and progression, facilitate early symptom detection, and inform family planning and genetic counseling. Candidates for FMR1 testing include males with intellectual disabilities and individuals with a family history of Fragile X syndrome or unexplained intellectual disabilities. Testing is also recommended for males with symptoms of Fragile X tremor/ataxia syndrome (after ruling out pathogenic SCA gene variations) and females with Premature Ovarian Failure. Carrier testing is available, but we do not accept prenatal specimens for Fragile X testing.

5-7 weeks

NGS

EDTA Blood ,DNA

1

DMPK trinucleotide repeat analysis is a molecular test used to identify expanded CTG repeats in the gene associated with type 1 myotonic dystrophy. Molecular testing is useful to confirm the diagnosis and to identify the disease-causing mutations within a family to allow for carrier testing and prenatal diagnosis.

5-7 weeks

NGS

EDTA Blood ,DNA

1

Friedreich’s ataxia (FRDA) is the most common hereditary ataxia and it´s an autosomal recessive degenerative disease.The most common DNA abnormality associated with Friedreich’s ataxia (FRDA) is the expansion of a GAA triplet repeat polymorphism localized in the first intron of the gene encoding frataxin (FXN).

5-7 weeks

NGS

EDTA Blood ,DNA

1

The autosomal-dominant spinocerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by slowly progressive cerebellar dysfunction. The most common types of SCAs are 1, 2, 3, 6 and 7 (caused by CAG trinucleotide repeats) and SCA8 (CTA/CTG expansions).

5-7 weeks

NGS

EDTA Blood ,DNA

6