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Specimen Collection Manual and Test Catalog

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HERITABLE DISORDERS OF CONNECTIVE TISSUE, GENEDX

Geisinger Epic Procedure Code:  LAB4037    Geisinger Epic ID:  167405
Test Restriction:  ORDER LIMITED TO GENETICS

SPECIMEN COLLECTION
Specimen type: 

EDTA whole blood (preferred) OR 2 buccal swabs


Preferred collection container: 
Alternate collection container: 
3 mL lavender-top (K2 EDTA) tube
Specimen required: 

2-5 mL EDTA whole blood OR 2 buccal swabs



SPECIMEN PROCESSING
Transport temperature: 

Refrigerated.


Specimen stability: 

Refrigerated: 7 days.



TEST DETAILS
CPT code(s):  81410, 81411
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Test includes: 

ACTA2, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3,


Methodology: 
Deletion/Duplication Analysis
Next Generation Sequencing
Synonyms: 

GENEDX CODE J555, CONNECTIVE TISSUE PANEL, CTD


Clinical significance: 

Molecular confirmation of a clinical diagnosis in symptomatic individuals. Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder. Genetic counseling and recurrence risk determination.


Doctoral Director(s): 
Randin Nelson MD
Review Date:  12/16/2024

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