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:
- Comprehensive preconception carrier test panel¹
- Craniofacial anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
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:
- Craniofacial anomalies panel with genome wide CNV analysis
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
- 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
- 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:
- Craniofacial anomalies panel with genome wide CNV analysis
- Hereditary cancer panel
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- Skin disorders panel¹
- Sonic hedgehog medulloblastoma panel
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:
- Craniofacial anomalies panel with genome wide CNV analysis
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) ¹
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- 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
- 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:
- Craniofacial anomalies panel with genome wide CNV analysis
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) ¹
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
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:
- Craniofacial anomalies panel with genome wide CNV analysis
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) ¹
- panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹
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
