NL
panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
DISP1 - holoprosencephaly, type10 ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly
This product is also part of the following panels:
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
- WES craniofacial anomalies (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % 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:
607502
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GLI2 - holoprosencephaly, type 9 ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly
This product is also part of the following panels:
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
- WES craniofacial anomalies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
165230
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PTCH1 - holoprosencephaly, type 7 ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly
This product is also part of the following panels:
- WES craniofacial anomalies (100.0% *)
- WES hereditary cancer (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES skin disorders¹ (100.0% *)
- WES sonic hedgehog medulloblastoma (100.0% *)
* % 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:
601309
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SHH - holoprosencephaly, type 3 ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly
This product is also part of the following panels:
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) ¹
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
- WES craniofacial anomalies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES vision disorders (100.0% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
600725
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SIX3 - holoprosencephaly, type 2 ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly
This product is also part of the following panels:
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) ¹
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
- WES craniofacial anomalies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
603714
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TGIF1 - holoprosencephaly, type 4 ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly
This product is also part of the following panels:
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) ¹
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
- WES craniofacial anomalies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
602630
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ZIC2 - holoprosencephaly, type 5 ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly
This product is also part of the following panels:
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) ¹
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
- WES craniofacial anomalies (99.9% *)
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES orofacial clefting (99.9% *)
* % 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
- Deletion/duplication analysis (MLPA)
OMIM:
603073
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
