Lab Test

Test Definition Number : 56
Test Definition Name : CFTR sequence analysis
Lab Name : Hospital of the University of Pennsylvania
Lab Test Number of THIS Version : 1029
Lab Test Name : Cystic Fibrosis Mutation Analysis
Status : Active
Expired : No
Updated : 2017-02-17 16:16 EST

General Attributes

Chromosome Band : 7q31.2
HUGO Gene Name : [CFTR] cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
ICD-Oncology Code
(includes WHO classification diagnoses)
:

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Polymerase Chain Reaction (PCR)
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
ICD-10 Code :
Use : Clinical - CLIA-certified lab
Genetics Category : Germline (inherited)
SNOMED CT :
LOINC : [21654-9] CFTR gene mutation analysis
Comments : Testing for the 23 most common CFTR mutations identified in the general US population following the recommendation of ACMG (Watson et al., 2004).
Specimen Transport Requirements :
Samples Available for Proficiency Test Sample Exchange : No

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