Achondroplasia / Hypochondroplasia

Test Information

Titre
Achondroplasia / Hypochondroplasia
Lab
Catégorie
Skeletal growth
Test Name (CMS Title)
Achondroplasia and Hypochondroplasia
Gene/Platform/Region List

FGFR1, FGFR2, FGFR3, TWIST1

Test type
Samples Accepted
Blood, DNA
Indications
Diagnostics
Test Methodology
Sequencing
Methodology Notes

Gene sequencing (Sanger- Robot); Targeted sanger sequencing; MLPA

Disease/Condition

Skeletal dysplasia, Achondroplasia, Hypochondroplasia

Dernière Mise à Jour: 09 décembre 2025