Hartsfield syndrome

FGFR1 - Hartsfield syndrome

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Hartsfield syndrome
• Conditions > Skeletal > Hartsfield syndrome

This product is also part of the following panels:

• panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) ¹
• WES craniofacial anomalies (100.0% *)
• WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
• WES hypogonadotropic hypogonadism (Kallmann) (100.0% *)
• WES intellectual disability (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES orofacial clefting (100.0% *)
• WES short stature/skeletal dysplasia (100.0% *)
• WES skin disorders¹ (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

OMIM: 136350
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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