Genetic Test Details
CFTR Common Mutation Panel
Test Information
- Titre
-
CFTR Common Mutation Panel
- Catégorie
- Respiratory
- Sub Category
-
Cystic Fibrosis
- Gene/Platform/Region List
-
c.54-5940 273+10250del, c.254G>A, c.262_263del, c.350G>A, c.366T>A, c.489+1G>T, c.579+1G>T, c.948deI, c.1000C>T, c.1040G>C, c.1040G>A, c.1210-12T[5/7/9], c.1364C>A, c.1466C>A, c.1519_1521del, c.1521_1523del, c.1558G>T, c.1585-1G>A, c.1624G>T, c.1646G>A, c.1647T>G, c.1652G>A, c.1657C>T, c.1675G>A, c.1679G>C, c.1679G>A, c.1766+1G>A, c.1766+1G>C, c.1766+1G>T, c.1766+5G>T, c.2051_2052delinsG, c.2052deI, c.2175dup, c.2657+2_2657+3insA, c.2657+5G>A, c.2988+1G>A, c.3276C>A/G, c.3302T>A, c.3454G>C, c.3484C>T, c.3528deI, c.3718-2477C>T, c.3744deI, c.3764C>A, c.3773dup, c.3846G>A, c.3909C>G
- Test type
- Targeted Variant
- Samples Accepted
- Blood, DNA, Dried Blood Spot – Dx collected Dried Blood Spot* (NBS DBS are considered in exceptional circumstances)
- Indications
- Carrier Cascade Testing, Diagnostics
- Test Methodology
- Sequencing
- Disease/Condition
-
Cystic Fibrosis carrier screening and newborn screen positive
Dernière Mise à Jour: 04 juin 2026
