Ectrodactyly / cleft lip/palate syndrome type 3 / Ectodermal dysplasia

Genetic test Export to PDF

Full name:	Ectrodactyly / cleft lip/palate syndrome type 3 / Ectodermal dysplasia
Test type:	Clinical
Test specialty:	Molecular Genetics
Test purpose:	Post-natal Diagnosis
Specimen:	Peripheral (whole) blood on EDTA
Method category:	Sequence analysis: entire coding region Deletion/duplication analysis
Method technique:	Next Generation Sequencing (NGS)
Laboratory:	Centrum Medische Genetica - UZ Gent
RIZIV code:	565471-565482
Turnaround time (maximum):	8 weeks
Document(s):	H9.2-F1-Aanvraagformulier-postnataal-genetisch-onderzoek-v29.pdf315.8 KB
Created:	29 Jul 2019 - 18:09
Changed:	13 Dec 2022 - 15:28

Related Diseases

• Autosomal dominant hypohidrotic ectodermal dysplasia
• Autosomal recessive hypohidrotic ectodermal dysplasia
• Cleft lip and alveolus
• Cleft lip/palate
• EEC syndrome
• Isolated cleft lip
• Odonto-onycho-dermal dysplasia
• Oligodontia

Related Laboratories

• Centrum Medische Genetica - UZ Gent

Related Analytes

• AXIN2
• EDA
• EDAR
• EDARADD
• GREM2
• LRP6
• MSX1
• PAX9
• TP63
• WNT10A
• WNT10B

Related Gene Panels

• Ectrodactyly / cleft lip/palate / Ectodermal dysplasia - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AXIN2	100.00	1
  EDA	100.00	1
  WNT10A	100.00	1
  PAX9	100.00	1
  MSX1	100.00	1
  WNT10B	100.00	1
  EDAR	100.00	1
  EDARADD	100.00	1
  LRP6	100.00	1
  TP63	100.00	1
  GREM2	100.00	1