Panel

panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) ¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 505

panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2) ¹



€ 505

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




€ 505
Panel

panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 864

panel holoprosencephaly (SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1) ¹



€ 864

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




€ 864
Gene

DISP1 - holoprosencephaly, type10 ¹

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

DISP1 - holoprosencephaly, type10 ¹



€ 459

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 (99.7% **)

** % 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 ¹

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

GLI2 - holoprosencephaly, type 9 ¹



€ 525

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 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




€ 525
Gene

PTCH1 - holoprosencephaly, type 7 ¹

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

PTCH1 - holoprosencephaly, type 7 ¹



€ 534

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 (99.2% **)
  • WES hereditary cancer (99.2% **)
  • WES intellectual disability (99.2% **)
  • WES Mendelian inherited disorders (99.2% **)
  • WES skin disorders¹ (99.2% **)
  • WES sonic hedgehog medulloblastoma (99.2% **)

** % 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
Gene

SHH - holoprosencephaly, type 3 ¹

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

SHH - holoprosencephaly, type 3 ¹



€ 410

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 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




€ 410
Gene

SIX3 - holoprosencephaly, type 2 ¹

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

SIX3 - holoprosencephaly, type 2 ¹



€ 393

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% **)

** % 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 ¹

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

TGIF1 - holoprosencephaly, type 4 ¹



€ 402

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% **)

** % 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 ¹

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

ZIC2 - holoprosencephaly, type 5 ¹



€ 410

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 (96.3% **)
  • WES intellectual disability (96.3% **)
  • WES Mendelian inherited disorders (96.3% **)

** % 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