ABCA1- Tangier disease

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Tangier disease

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

Method

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

OMIM: 600046
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

AADC - Aromatic L-amino acid decarboxylase deficiency

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

AADC - Aromatic L-amino acid decarboxylase deficiency



€ 725

AADC - Aromatic L-amino acid decarboxylase deficiency

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Aromatic L-amino acid decarboxylase deficiency

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic 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: 608643
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

AAGAB - palmoplantar keratoderma, type punctata ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 385

AAGAB - palmoplantar keratoderma, type punctata ¹



€ 385

AAGAB - palmoplantar keratoderma, type punctata ¹

This test is available for the following conditions:

  • Conditions > Skin > Palmoplantar keratoderma

This product is also part of the following panels:

  • Mendelian inherited disorders 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: 614888
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385
Gene

AARS2 - Combined oxidative phosphorylation deficiency

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

AARS2 - Combined oxidative phosphorylation deficiency



€ 725

AARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Heart disorders panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • Movement disorders panel
  • Premature ovarian insufficiency panel

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

Method

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

OMIM: 612035
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

AASS - hyperlysinemia

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 492

AASS - hyperlysinemia



€ 492

AASS - hyperlysinemia

This test is available for the following conditions:

  • Conditions > Neurological > Hyperlysinemia

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks

Method

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

OMIM: 238700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 492
Gene

ABCA1 - HDL deficiency type 2

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

ABCA1 - HDL deficiency type 2



€ 725

ABCA1 - HDL deficiency type 2

This test is available for the following conditions:

  • Conditions > Metabolic disorders > HDL deficiency

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

Method

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

OMIM: 600046
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ABCA1- Tangier disease

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

ABCA1- Tangier disease



€ 725
Gene

ABCA12 - lamellar, harlequin ichthyosis ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 715

ABCA12 - lamellar, harlequin ichthyosis ¹



€ 715

ABCA12 - lamellar, harlequin ichthyosis ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) ¹
  • 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: 607800
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 715
Gene

ABCA4 - Bull's eye maculopathie

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 706

ABCA4 - Bull's eye maculopathie



€ 706

ABCA4 - Bull's eye maculopathie

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Macula dystrophy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders 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
  • Analysis of one or more specific deletions
Remarks
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as a seperate test".

OMIM: 601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 706
Gene

ABCA4 - cone-rod dystrophy type 3

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 706

ABCA4 - cone-rod dystrophy type 3



€ 706

ABCA4 - cone-rod dystrophy type 3

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Cone-rod dystrophy (CRD)

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Vision disorders panel

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Analysis of one or more specific deletions
Remarks
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as separate test ."

OMIM: 601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 706
Gene

ABCA4 - retinitis pigmentosa type 19

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 706

ABCA4 - retinitis pigmentosa type 19



€ 706

ABCA4 - retinitis pigmentosa type 19

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Vision disorders panel

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Analysis of one or more specific deletions
Remarks
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as separate test ."

OMIM: 601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 706