Gene

CHD7 - CHARGE syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 991

CHD7 - CHARGE syndrome



€ 991

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

** % 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
Remarks
"Evaluation of over 450 patients showed that deletions are rare, and are only found in patients that fulfill the classic criteria of CHARGE syndrome. If a strong suspicion remains, MLPA analysis can still be performed."

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




€ 991
MLPA

CHD7 - CHARGE syndrome (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 609

CHD7 - CHARGE syndrome (MLPA)



€ 609

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

** % 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

  • Deletion/duplication analysis (MLPA)

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




€ 609