PQBP1 - X-linked intellectual disability type Renpenning (MLPA)

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

This product is also part of the following panels:

  • Epilepsy panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Orofacial clefting panel with genome wide CNV analysis
  • Skin disorders panel¹

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

Method

  • Deletion/duplication analysis (MLPA)

OMIM: 300463
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 400
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Gene

X-inactivation

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 476
View Add

X-inactivation


€ 476
Add

X-inactivation

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Intellectual disability, X-linked

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

Method

  • PCR followed by fragment (length) analysis
  • Methylation analysis
Remarks
DNA of the proband is required

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



€ 476
Add
MLPA

PQBP1 - X-linked intellectual disability type Renpenning (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400
View Add

PQBP1 - X-linked intellectual disability type Renpenning (MLPA)


€ 400
Add