GNE

Automated DNA Sanger sequencing is currently the gold standard test for detecting most variations (e.g. deletions, insertions and point mutations) in DNA. Many mutations associated with hereditary diseases and a known gene or genes can be detected by DNA sequencing. —- dataentry testdata —- Gene : GNE, UDP-GlcNAc 2-Epimerase/ManNAc Kinase OMIM_omim : 603824 Diseases : Hereditary Inclusion Body Myopathy (HIBM) or Distal Myopathy with Rimmed Vacuoles (DMRV) or GNE myopathy or Nonaka Myopathy CPTs : 83890 x1, 83898 x13, 83894 x1, 83891 x1, 83904 x26, 83912 x1 Test-Type : single_gene #Used to filter results in table


Clinical Description

Hereditary Inclusion Body Myopathy (HIBM): Hereditary Inclusion Body Myopathy type 2 (HIBM, IBM2), also known as Distal Myopathy with Rimmed Vacuoles (DMRV), causes progressive muscle wasting beginning in young adults. It can lead to very severe disability and patients often become wheelchair bound within 10-20 years after symptoms begin. Muscle weakness initially shows as difficulty running or rapid walking due to weakness of the muscles below the knees. Arm muscles below the elbow can also be affected early. Larger muscles above the knees and elbow become affected within a few years, including the shoulder and hip muscles. Advanced cases show weakness of neck and trunk muscles. A few may also show problems with facial muscles or the heart. Although HIBM currently does not have a treatment, animal studies have offered hope that treatment will be developed. For unknown reasons, a few people who are genetically similar to the patients do not show symptoms (i.e. penetrance of homozygous genotype is less than 100%).

Test Indication

GNE gene sequence

Specimen

Test can be performed on genomic DNA or cDNA extracted from peripheral blood, epithelial cells obtained by Buccal swab, or from most other biological tissues as defined by the specific procedure. Samples should have adequate of amount of DNA to obtain clinically reliable result. The quantity and quality of DNA in sample is recognized by quality control procedures of the protocols.

  BLOOD: Collect a minimum of 4 ml in EDTA (purple-top) tube or ACD (yellow-top) tube. Store and ship at room temperature. Samples can be stored at 4 C for longer term storage.
  Samples should be received within 72 hours of blood draw.
  BUCCAL SWAB: Allow swab to air dry before shipping. Store and ship at room temperature.
  DNA: Send at least 20 µg in water at 50-100 ng/µl. Store refrigerated 2-10 C and ship at room temperature. Note: Laboratory who did extraction needs to provide CLIA number, if international laboratory, provide the equivalent.
  PRENATAL: Please contact the lab for instructions.

Sample Rejection Criteria: Refer to routine Rejection Criteria.

Turnaround Time

7to15 days

Test Method

Sanger sequence

Pricing

Most of insurance can pay your test.

Please call us to give accommodations in case your insurance dos not cover or you do not have insurance

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