MOLECULAR STUDY FACIO SCAPULO HUMERAL DYSTROPHY, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4233

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Southern Blot (LOINC®: SB)
Set Up Days:	Daily
Plazo de Entrega:	47 days
Information:
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and arm muscles. FSHD is a rare familial disease; prevalence is approximately 1:20,000, although this is likely to be an underestimate as the disease often remains undiagnosed. It is the 3rd most frequent form of myopathy. Onset occurs between three and 50 years of age and although disease progression is usually slow, some patients display periods of stability followed by periods of rapid deterioration. FSHD is a genetic disease but the underlying molecular mechanism remains uncertain despite significant advances in the identification of several of the genes involved (FRG1, SLC25A4 and DUX4), leading to the suggestion that FSHD results from alterations in cell differentiation. The genetic anomaly has been localized to the long arm of chromosome 4 (4q35). Molecular diagnosis relies on the detection of a deletion within the D4Z4 repeat region at 4q35, with molecular test results being considered as positive if the number of repeats is lower than 10/11. However, this anomaly has not been detected in 5% of patients clinically diagnosed with FSHD.
Links:
OMIM Entry - # 158900 - FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
OMIM Entry - # 158901 - FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2
OMIM Entry - 600416 - MUSCULAR DYSTROPHY, SCAPULOHUMERAL
Orphanet- Distrofia muscular facioscapulohumeral
OMIM Entry - - 103220 - SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4; SLC25A4
OMIM Entry - - 601278 - FSHD REGION GENE 1; FRG1
OMIM Entry - - 606009 - DOUBLE HOMEOBOX PROTEIN 4; DUX4

   Find the record of the test by clicking here