Treacher Collins-Franceschetti syndrome

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:

• Comprehensive preconception carrier test panel¹
• Craniofacial anomalies panel with genome wide CNV analysis
• Hearing impairment panel (including GJB2)
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Orofacial clefting panel with genome wide CNV analysis
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders panel¹

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

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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:

• Comprehensive preconception carrier test panel¹
• Craniofacial anomalies panel with genome wide CNV analysis
• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel with genome wide CNV analysis
• Orofacial clefting panel with genome wide CNV analysis
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders panel¹

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

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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:

• TCOF1 - Treacher Collins syndrome type 1 (MLPA)

This product is also part of the following panels:

• Craniofacial anomalies panel with genome wide CNV analysis
• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel with genome wide CNV analysis
• Orofacial clefting panel with genome wide CNV analysis
• Short stature/skeletal dysplasia panel with genome wide CNV analysis

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

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