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 (99.6% **)
  • WES hypogonadotropic hypogonadism (Kallmann) (99.6% **)
  • WES intellectual disability (99.6% **)
  • WES Mendelian inherited disorders (99.6% **)
  • WES short stature/skeletal dysplasia (99.6% **)
  • WES skin disorders¹ (99.6% **)

** % 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




€ 723

Gene

FGFR1 - Hartsfield syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 723

FGFR1 - Hartsfield syndrome



€ 723