Gene

POLR1C - Treacher Collins syndrome type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

POLR1C - Treacher Collins syndrome type 3



€ 369

POLR1C - Treacher Collins syndrome type 3

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Treacher Collins-Franceschetti syndrome
  • Conditions > Hearing impairment > Treacher Collins-Franceschetti syndrome
  • Conditions > Vision impairment / blindness > Treacher Collins-Franceschetti syndrome

This product is also part of the following panels:

** % 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: 610060
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

POLR1D - Treacher Collins syndrome type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 345

POLR1D - Treacher Collins syndrome type 2



€ 345

POLR1D - Treacher Collins syndrome type 2

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Treacher Collins-Franceschetti syndrome
  • Conditions > Hearing impairment > Treacher Collins-Franceschetti syndrome
  • Conditions > Vision impairment / blindness > Treacher Collins-Franceschetti syndrome

This product is also part of the following panels:

** % 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: 613715
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 345
Gene

TCOF1 - Treacher Collins syndrome type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 534

TCOF1 - Treacher Collins syndrome type 1



€ 534

TCOF1 - Treacher Collins syndrome type 1

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Treacher Collins-Franceschetti syndrome
  • Conditions > Hearing impairment > Treacher Collins-Franceschetti syndrome
  • Conditions > Vision impairment / blindness > Treacher Collins-Franceschetti syndrome

This product is often ordered in combination with:

This product is also part of the following panels:

** % 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 showed that deletions are very rare. If a strong suspicion remains, MLPA analysis can still be performed."

OMIM: 606847
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 534
MLPA

TCOF1 - Treacher Collins syndrome type 1 (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

TCOF1 - Treacher Collins syndrome type 1 (MLPA)



€ 400

TCOF1 - Treacher Collins syndrome type 1 (MLPA)

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Treacher Collins-Franceschetti syndrome
  • Conditions > Hearing impairment > Treacher Collins-Franceschetti syndrome
  • Conditions > Vision impairment / blindness > Treacher Collins-Franceschetti syndrome

This product is often ordered in combination with:

This product is also part of the following panels:

** % 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: 606847
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 400