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
Blood, DNA
Indications
Diagnostics, Prenatal
Test Methodology
CNV, Sequencing
Methodology Notes

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

Disease/Condition

Skeletal dysplasia, Achondroplasia, Hypochondroplasia

Dernière Mise à Jour: 05 septembre 2025