Gene

ALMS1 - Alstrom syndrome type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 690

ALMS1 - Alstrom syndrome type 1



€ 690

ALMS1 - Alstrom syndrome type 1

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Alstrom syndrome
  • Conditions > Hearing impairment > Alstrom syndrome
  • Conditions > Endocrine > Alstrom syndrome
  • Conditions > Renal / Nephrological > Alstrom syndrome
  • Conditions > Vision impairment / blindness > Alstrom syndrome

This product is also part of the following panels:

  • WES ciliopathies (99.7% **)
  • WES heart disorders* (99.7% **)
  • WES intellectual disability (99.7% **)
  • WES Mendelian inherited disorders (99.7% **)
  • WES renal disorders (99.7% **)
  • WES short stature/skeletal dysplasia (99.7% **)
  • WES vision disorders (99.7% **)

** % 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

OMIM: 606844
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 690