LPIN1

Mutations in the sodium channel gene LPIN1 are associated with autosomal recessive recurrent myoglobinuria (OMIM 605518).

 

Due to the unique nature of genetic testing, patients should receive pre-test and post-test counseling. Informed consent is recommended.

Test Order Code LPIN1
CPT Codes 83891 x 1, 83898 x 19, 83904 x 19, 83909 x 19, 83912 x 1
Indications For Testing

This test should be offered in the context of genetic counseling prior to and after test completion.

  • Confirmation of a clinical diagnosis
  • Assistance with a clinical diagnosis
  • Genetic counseling
Gene

LPIN1

Turn Around Time

 Three weeks.
Specimen Requirements

Ship one of the following:

Saliva
You must order either the DNA Specimen Collection Kit – Sponge Swab (Part Number 443006) or the DNA Specimen Collection Kit – Saliva Tube (Part Number 443007) from Transgenomic to send a saliva sample. Follow the directions in the kit for specific saliva collection requirements.

Peripheral Blood
A full 4 ml blood sample in the 4 ml Lavender-top (EDTA) tube provided in the DNA Specimen Collection Kit (Part Number 443002) is required. Keep the sample at ambient temperature and ship by overnight courier to the test laboratory.

Specimen Kits DNA Specimen Collection Kits can be obtained from Transgenomic Labs.
Shipping and Contact Information Transgenomic Labs
Five Science Park, New Haven, CT 06511 USA
Phone:1.877.274.9432 Fax: 203.786.3418
E-mail: labservice@transgenomiclabs.com
Test Submission  and Patient Consent Forms

    Test Requisition and Patient Consent Form

Due to the unique nature of genetic testing, patients should receive pre-test and post-test counseling. Informed consent is recommended.

Test Methodology All coding exons and flanking intronic regions of the gene LPIN1 are analyzed by agarose gel to detect large deletions and by direct sequencing.
References
  1. Zeharia et al. (2008) Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet. 83:489-94, PubMed 18817903.
  2. Michot et al. (2010) LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat. 31:E1564-73, PubMed 20583302.

Note: The performance characteristics of this test were validated by Transgenomic Labs. The U.S. Food and Drug Administration (FDA) has not approved this test. However, FDA approval is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. Transgenomic Labs is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.