Congenital disorder of glycosylation

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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• 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

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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Liver disorders panel
• Lymphatic anomalies panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Liver disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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: 604041
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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 with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 with genome wide CNV analysis
• Heart disorders panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Muscle disorders panel
• Orofacial clefting 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

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

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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 / developmental delay panel with genome wide CNV analysis
• Lymphatic anomalies panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Movement disorders panel
• Polyneuropathies 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Primary immunodeficiencies panel
• 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

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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• 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

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