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Achondroplasia / Hypochondroplasia

Test Information

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

FGFR1, FGFR2, FGFR3, TWIST1

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

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

Disease/Condition

Skeletal dysplasia, Achondroplasia, Hypochondroplasia

Last Updated: December 09, 2025

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