PTCH1 - holoprosencephaly, type 7 *

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly

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: 601309
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 534

Products Conditions Multiple congenital anomalies (MCA) Holoprosencephaly
Panel

panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) *

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 505

panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) *



€ 505

panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) *

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




€ 505
Panel

panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) *

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 864

panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) *



€ 864

panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) *

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




€ 864
Gene

DISP1 - holoprosencephaly, type10 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 459

DISP1 - holoprosencephaly, type10 *



€ 459

DISP1 - holoprosencephaly, type10 *

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly

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: 607502
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 459
Gene

GLI2 - holoprosencephaly, type 9 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 525

GLI2 - holoprosencephaly, type 9 *



€ 525

GLI2 - holoprosencephaly, type 9 *

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly

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
  • Deletion/duplication analysis (MLPA)

OMIM: 165230
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 525
Gene

PTCH1 - holoprosencephaly, type 7 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 534

PTCH1 - holoprosencephaly, type 7 *



€ 534
Gene

SHH - holoprosencephaly, type 3 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 410

SHH - holoprosencephaly, type 3 *



€ 410

SHH - holoprosencephaly, type 3 *

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly

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
  • Deletion/duplication analysis (MLPA)

OMIM: 600725
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410
Gene

SIX3 - holoprosencephaly, type 2 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 393

SIX3 - holoprosencephaly, type 2 *



€ 393

SIX3 - holoprosencephaly, type 2 *

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly

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
  • Deletion/duplication analysis (MLPA)

OMIM: 603714
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 393
Gene

TGIF1 - holoprosencephaly, type 4 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 402

TGIF1 - holoprosencephaly, type 4 *



€ 402

TGIF1 - holoprosencephaly, type 4 *

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly

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
  • Deletion/duplication analysis (MLPA)

OMIM: 602630
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 402
Gene

ZIC2 - holoprosencephaly, type 5 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 410

ZIC2 - holoprosencephaly, type 5 *



€ 410

ZIC2 - holoprosencephaly, type 5 *

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Holoprosencephaly

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
  • Deletion/duplication analysis (MLPA)

OMIM: 603073
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410