CHARGE syndrome

CHD7 - CHARGE syndrome

This test is available for the following conditions:

• Conditions > Intellectual Disability > CHARGE syndrome
• Conditions > Multiple congenital anomalies (MCA) > CHARGE syndrome
• Conditions > Hearing impairment > CHARGE syndrome
• Conditions > Endocrine > CHARGE syndrome
• Conditions > Vision impairment / blindness > CHARGE syndrome

This product is also part of the following panels:

• Congenital heartdisease panel¹
• Craniofacial anomalies panel with genome wide CNV analysis
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hearing impairment panel (including GJB2)
• Heart disorders panel¹
• Hypogonadotropic hypogonadism (Kallmann) panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Orofacial clefting panel with genome wide CNV analysis
• Primary immunodeficiencies 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

Remarks
MLPA analysis only upon request.

OMIM: 608892
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CHD7 - CHARGE syndrome (MLPA)

This test is available for the following conditions:

• Conditions > Intellectual Disability > CHARGE syndrome
• Conditions > Multiple congenital anomalies (MCA) > CHARGE syndrome
• Conditions > Hearing impairment > CHARGE syndrome
• Conditions > Vision impairment / blindness > CHARGE syndrome

This product is also part of the following panels:

• Congenital heartdisease panel¹
• Craniofacial anomalies panel with genome wide CNV analysis
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hearing impairment panel (including GJB2)
• Heart disorders panel¹
• Hypogonadotropic hypogonadism (Kallmann) panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Orofacial clefting panel with genome wide CNV analysis
• Primary immunodeficiencies panel
• Vision disorders panel

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

Method

• Deletion/duplication analysis (MLPA)

OMIM: 608892
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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