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ANO5
MessageSpecimen MUST be accompanied by Prevention Genetics requsition form. See link below or contact Send Out department at 857-203-5975.
Test cost: $1090
This test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test cost: $1090
This test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
ANO5(O)
Alias/See Also
Anoctamin 5
Gnathodiaphyseal Dysplasia
GDD1
Gnathodiaphyseal Dysplasia
GDD1
Preferred Specimen
Whole Blood EDTA
Minimum Volume
2mL (5mL preferred)
Other Acceptable Specimens
Yellow ACD
Transport Temperature
Room Temperature
Specimen Stability
Room Temperatue: 48 hours
Refrigerated: one week
Refrigerated: one week
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Frozen
Methodology
Bi-Directional Sanger Sequencing
Deletion/duplication testing via array comparative genomic hybridization
Report Available
Max TAT of 40 days. Usually completed within 2-3 weeks.
Limitations
Any copy number changes smaller than 300bps (within the targeted region) may not be detected by our array.
This array may not detect deletion and amplification mutations present at low levels of mosaicism or those present in genes that have pseudogene copies or repeats elsewhere in the genome.
aCGH will not detect balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype
Breakpoints, if happened outside the targeted gene, may be hard to define.
The sensitivity of this assay may be reduced when DNA is extracted by an outside laboratory.
This array may not detect deletion and amplification mutations present at low levels of mosaicism or those present in genes that have pseudogene copies or repeats elsewhere in the genome.
aCGH will not detect balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype
Breakpoints, if happened outside the targeted gene, may be hard to define.
The sensitivity of this assay may be reduced when DNA is extracted by an outside laboratory.
Reference Range
Provided with the patient report in CPRS.
Clinical Significance
Mutations in the ANO5 gene (TMEM16E; OMIM #608662) cause gnathodiaphyseal dysplasia (GDD, OMIM#166260), limb girdle muscular dystrophy type 2L (LGMD2DL; OMIM #611307), and distal, non-dysferlin Miyoshi myopathy (MMD3; Bolduc, V. et al. Am J Hum Genet 86(2):213-221, 2010). Gnathodiaphyseal dysplasia is characterized by cemento-osseous lesions of the jawbones, bone fragility, and bowing/sclerosis of tubular bones (Tsutsumi, S. et al. Am J Hum Genet 74(6): 1255-1261, 2004).
Indications for Test
Individuals with symptoms consistent with autosomal dominant gnathodiaphyseal dysplasia and the family members of patients who have known ANO5 mutations.
Indications for Test
Individuals with symptoms consistent with autosomal dominant gnathodiaphyseal dysplasia and the family members of patients who have known ANO5 mutations.
Performing Laboratory
Test performed at Prevention Genetics and transported via Quest.
Additional Information
Link to Prevention Genetics test description.
Link to Prevention Genetics requisition form.
Last Updated: November 3, 2015
