Connective Tissues Disorders Panel

INDICATION-SPECIFIC GENE PANEL TESTING

 ConnectiveTissueDisorders_Panel

 

Connective Tissue Disorders Panel 

 

 

 

DETECTION ABILITIES:

  • This panel includes both full sequencing and high resolution deletion/duplication analysis.
  • Detection ability is limited to the genes specified; it does not provide whole genome analysis.
  • Gene panels are a more cost-effective approach than single gene testing to confirm or establish a diagnosis.

GENES COVERED:   Gene List

DISORDERS INCLUDED IN THIS PANEL:
  • Arterial tortuosity
  • Autosomal dominant supravalvular aortic stenosis
  • Congenital contractural arachnodactyly (Beals syndrome) – GeneReviews™
  • Ehlers-Danlos
    • Classic (types I and II) – GeneReviews™
    • Hypermobility (type III) – GeneReviews™
    • Vascular (type IV) – GeneReviews™
    • Kyphoscoliotic (type VI) – GeneReviews™
    • Cardiac valvular form
    • Type VIIA
    • Type VIIB
    • Occipital horn (type IX)
    • EDS with progressive kyphoscoliosis, myopathy, and hearing loss
    • Musculocontractural type I
    • Periventricular heterotopia variant (PVNH4)
  • ELN-related conditions
    • Autosomal dominant supravalvular aortic stenosis – GeneReviews™
    • Cutis laxa
  • FBN1-related disorders
  • FLNA-related cardiac valvular disease
  • Familial thoracic aneurysms and aortic dissections (TADD) – GeneReviews™
  • Homocystinuria – GeneReviews™
  • Loeys-Dietz (types I, II, III, IV) – GeneReviews™
  • Myhre
  • Sphrintzen-Goldberg
  • Stickler (types I, II, III, IV, V) – GeneReviews™

INDICATIONS FOR TESTING: 

  • Joint issues: hypermobility, dislocation, chronic pain
  • Skin findings: cutis laxa, abnormal or atrophic scars, poor wound healing, spontaneous bruising
  • Ocular findings: ectopia lentis, myopia, retinal detachment
  • Pneumothorax
  • Cardiac findings: congenital heart defect, mitral valve prolapse, aortic root enlargement, thoracic aneurysm, aortic dissection, other aneurysms/dissections
  • Skeletal variants: tall or short stature, pectus excavatum, pectus carinatum, arachnodactyly, brachydactyly, pes planus, long wingspan
  • Personal or family history of: sudden cardiac death, aneurysm/dissection, rupture of internal organ, rectal or uterine prolapse
  • Craniofacial anomalies or dysmorphic features

OUR LABORATORY'S RECOMMENDED TESTING STRATEGY 

Comprehensive Testing:  Connective Tissue Disorders

Next Generation Sequencing Panel with reflex to Deletion/Duplication Analysis

Next Generation Sequencing

  • Next generation sequencing (NGS) analyzes multiple genes at once, making this a cost-effective method of testing many potentially causative genes simultaneously rather than Sanger sequencing one gene at a time.

Targeted Deletion/Duplication Testing

  • If sequencing is normal, Deletion/Duplication Analysis of the genes in this panel is performed to identify partial or whole gene deletions and duplications responsible for the patient’s phenotype. Deletion/Duplication Analysis only evaluates the genes included in this panel.

NOTE:  Each of the tests recommended for comprehensive testing can be ordered individually if the comprehensive package is not desired. For questions regarding testing strategies for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.

  

REQUIRED FORMS:   Postnatal Test Request Form

OTHER FORMS:   Request for Pre-Authorization for Genetic Testing (Postnatal Diagnoses on peripheral blood)  


SPECIMEN COLLECTION & SHIPPING

SPECIMEN REQUIREMENTS: 

  • Blood >3 mo of age: 3-5 ml in an EDTA tube (purple top)
  • Blood (newborn minimum requirement): 1 ml in an EDTA tube (purple top)
  • Buccal swab*: kits available upon request
  • Extracted DNA: 5 μg 

*Buccal swabs may not yield an adequate amount of DNA for next generation sequencing. Please contact our laboratory before sending buccal swabs for this testing methodology.


CPT CODES: 

  • Next Generation Sequencing: 81407(x2)
  • Targeted Deletion/Duplication Testing: 81228 

PRICING:   Contact the laboratory billing staff for current costs. 


TURN-AROUND-TIME:   Results are typically available in ­2-6 weeks. 


LINKS and REFERENCES: 


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contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

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