Stickler Syndrome

$600.00

Category:

Anemia is a medical condition characterized by a decrease in the number of red blood cells or a decrease in the amount of hemoglobin, an iron-rich protein that carries oxygen in the blood. This can lead to a reduction in the amount of oxygen delivered to the body’s tissues, resulting in symptoms such as fatigue, weakness, shortness of breath, and pale skin. Anemia can be caused by a variety of factors, including blood loss, poor nutrition, chronic diseases, and inherited conditions. The specific type of anemia is usually determined through a combination of medical history, physical examination, and laboratory tests, including a Complete Blood Count (CBC) and iron studies. Treatment for anemia depends on the underlying cause and may include dietary changes, supplements, and medications. required if the blood test is positive.

Overview
Genes

6 Genes

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

Disorders
  • Stickler Syndrome
  • Hearing Loss
Gene Function
Lab Method & Assay
  • Next Generation Sequencing
  • Deletion/Duplication Analyses
  • Sanger Sequencing
Test Limitations

All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Test Code

Buccal Swab

Turn Around Time

4-6 weeks

CPT Codes

81479

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

References