Alstrom syndrome

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 with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Renal disorders panel
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• 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

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