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:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hearing impairment panel (including GJB2)
- Heart disorders panel¹
- Intellectual disability panel
- Mendelian inherited disorders panel
- Renal disorders panel
- Short stature/skeletal dysplasia panel
- Vision disorders panel
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