Genetic Test Details

Achondroplasia / Hypochondroplasia

Test Information

Titre
Achondroplasia / Hypochondroplasia
Catégorie
Skeletal\Growth
Sub Category
Achondroplasia and Hypochondroplasia
Gene/Platform/Region List
FGFR1, FGFR2, FGFR3, TWIST1
Test type
Gene Panel
Samples Accepted
DNA , Blood
Indications
Diagnosis , Prenatal
Test Methodology
Sequencing , CNV
Methodology Notes
Gene sequencing (Sanger- Robot); Targeted sanger sequencing; MLPA
Disease/Condition
Skeletal dysplasia, Achondroplasia, Hypochondroplasia

Dernière Mise à Jour: 18 juin 2025