Genetic Test Details

Achondroplasia / Hypochondroplasia

Test Information

Title
Achondroplasia / Hypochondroplasia
Category
Skeletal\Growth
Sub Category
Achondroplasia and Hypochondroplasia
Gene/Platform/Region List

FGFR1, FGFR2, FGFR3, TWIST1

Test type
Gene Panel
Samples Accepted
Blood, DNA
Indications
Diagnosis, Prenatal
Test Methodology
CNV, Sequencing
Methodology Notes

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

Disease/Condition

Skeletal dysplasia, Achondroplasia, Hypochondroplasia

Last Updated: January 06, 2026