MPDU1 - Congenital disorder of glycosylation type If

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Epilepsy panel
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 604041
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

ALG12 - Congenital disorder of glycosylation type Ig

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ALG12 - Congenital disorder of glycosylation type Ig



€ 725

ALG12 - Congenital disorder of glycosylation type Ig

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Short stature/skeletal dysplasia panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607144
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ALG13 - Congenital disorder of glycosylation type Is

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ALG13 - Congenital disorder of glycosylation type Is



€ 725

ALG13 - Congenital disorder of glycosylation type Is

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Epilepsy panel
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Primary immunodeficiencies panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 300776
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ALG2 - Congenital disorder of glycosylation type Ii

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ALG2 - Congenital disorder of glycosylation type Ii



€ 725

ALG2 - Congenital disorder of glycosylation type Ii

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Muscle disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607905
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ALG6 - Congenital disorder of glycosylation type Ic

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ALG6 - Congenital disorder of glycosylation type Ic



€ 725

ALG6 - Congenital disorder of glycosylation type Ic

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Epilepsy panel
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 604566
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ALG8 - Congenital disorder of glycosylation type Ih

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ALG8 - Congenital disorder of glycosylation type Ih



€ 725

ALG8 - Congenital disorder of glycosylation type Ih

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Liver disorders panel
  • Lymphatic anomalies panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Renal disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 608103
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

B4GALT1 - Congenital disorder of glycosylation type Iid

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

B4GALT1 - Congenital disorder of glycosylation type Iid



€ 725

B4GALT1 - Congenital disorder of glycosylation type Iid

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Liver disorders panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 137060
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

CCDC115 - Congenital disorder of glycosylation type Iio

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

CCDC115 - Congenital disorder of glycosylation type Iio



€ 725

CCDC115 - Congenital disorder of glycosylation type Iio

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 613734
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

DOLK - Congenital disorder of glycosylation type Im

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

DOLK - Congenital disorder of glycosylation type Im



€ 725

DOLK - Congenital disorder of glycosylation type Im

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Heart disorders panel¹
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • 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: 610746
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

DPAGT1 - Congenital disorder of glycosylation type Ij

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

DPAGT1 - Congenital disorder of glycosylation type Ij



€ 725

DPAGT1 - Congenital disorder of glycosylation type Ij

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Epilepsy panel
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Muscle disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 191350
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

DPM3 - Congenital disorder of glycosylation type Io

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

DPM3 - Congenital disorder of glycosylation type Io



€ 725

DPM3 - Congenital disorder of glycosylation type Io

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Heart disorders panel¹
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Muscle disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 605951
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

MPDU1 - Congenital disorder of glycosylation type If

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

MPDU1 - Congenital disorder of glycosylation type If



€ 725
Gene

MPI - Congenital disorder of glycosylationtype Ib

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

MPI - Congenital disorder of glycosylationtype Ib



€ 725

MPI - Congenital disorder of glycosylationtype Ib

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Lymphatic anomalies panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 154550
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NGLY1 - Congenital disorder of glycosylation type IV

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NGLY1 - Congenital disorder of glycosylation type IV



€ 725

NGLY1 - Congenital disorder of glycosylation type IV

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Epilepsy panel
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Movement disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 610661
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

PGM1 - Congenital disorder of glycosylation type It

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PGM1 - Congenital disorder of glycosylation type It



€ 725

PGM1 - Congenital disorder of glycosylation type It

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Craniofacial anomalies panel
  • Heart disorders panel¹
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Muscle disorders panel
  • Orofacial clefting panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 171900
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

PMM2 - Congenital disorder of glycosylation type Ia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PMM2 - Congenital disorder of glycosylation type Ia



€ 725

PMM2 - Congenital disorder of glycosylation type Ia

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Epilepsy panel
  • Heart disorders panel¹
  • Intellectual disability panel
  • Lymphatic anomalies panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Movement disorders panel
  • Neuropathies panel¹
  • Premature ovarian insufficiency panel
  • Primary immunodeficiencies panel
  • Renal disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 601785
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

SLC35A1 - Congenital disorder of glycosylation type Iif

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

SLC35A1 - Congenital disorder of glycosylation type Iif



€ 725

SLC35A1 - Congenital disorder of glycosylation type Iif

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Primary immunodeficiencies panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 605634
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

SLC35A2 - Congenital disorder of glycosylation type Iim

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

SLC35A2 - Congenital disorder of glycosylation type Iim



€ 725

SLC35A2 - Congenital disorder of glycosylation type Iim

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Epilepsy panel
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 314375
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

SLC35C1 - congenital disorder of glycosylation, type 2c

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 327

SLC35C1 - congenital disorder of glycosylation, type 2c



€ 327

SLC35C1 - congenital disorder of glycosylation, type 2c

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Primary immunodeficiencies panel
  • Short stature/skeletal dysplasia panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 100690
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 327
Gene

SRD5A3 - congenital defect of glycosylation type Iq

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 352

SRD5A3 - congenital defect of glycosylation type Iq



€ 352

SRD5A3 - congenital defect of glycosylation type Iq

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Congenital disorder of glycosylation
  • Conditions > Metabolic disorders > Congenital disorder of glycosylation
  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation
  • Conditions > Vision impairment / blindness > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • 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: 611715
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 352
Gene

TMEM165 - Congenital disorder of glycosylation type Iik

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

TMEM165 - Congenital disorder of glycosylation type Iik



€ 725

TMEM165 - Congenital disorder of glycosylation type Iik

This test is available for the following conditions:

  • Conditions > Congenital disorder of glycosylation > Congenital disorder of glycosylation

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Short stature/skeletal dysplasia panel
  • 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: 614726
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725