Test catalogue

Genetic tests available for sample collection at our units. Search by test name or gene, and filter by specialty.

This list is indicative: the availability and turnaround time of each test should be confirmed with the unit before collection. Results should always be interpreted by your doctor.

Results

187 tests · Page 3 of 7

• Dyskeratosis congenita (CTC1 gene, NGS)

  Code 10700 · Next-generation sequencing (NGS)

  Genes: CTC1

  Turnaround time: 33 working days

• Dyskeratosis congenita (DKC1 gene, NGS)

  Code 10701 · Next-generation sequencing (NGS)

  Genes: DKC1

  Turnaround time: 33 working days

• Dyskeratosis congenita (NHP2 gene, NGS)

  Code 10703 · Next-generation sequencing (NGS)

  Genes: NHP2

  Turnaround time: 33 working days

• Dyskeratosis congenita (NOP10 gene, NGS)

  Code 10704 · Next-generation sequencing (NGS)

  Genes: NOP10

  Turnaround time: 33 working days

• Dyskeratosis congenita (TERT gene, NGS)

  Code 10699 · Next-generation sequencing (NGS)

  Genes: TERT

  Turnaround time: 33 working days

• Dyskeratosis congenita (TINF2 gene, NGS)

  Code 10702 · Next-generation sequencing (NGS)

  Genes: TINF2

  Turnaround time: 33 working days

• Dyskeratosis congenita (WRAP53 gene, NGS)

  Code 10705 · Next-generation sequencing (NGS)

  Genes: WRAP53

  Turnaround time: 33 working days

• Dystrophic epidermolysis bullosa (COL7A1 gene, NGS)

  Code 10861 · Next-generation sequencing (NGS)

  Genes: COL7A1

  Turnaround time: 33 working days

• Dystrophic epidermolysis bullosa (COL7A1 gene, NGS, CNVs)

  Code 3538 · Next-generation sequencing (NGS) + CNVs

  Genes: COL7A1

  Turnaround time: 30 working days

• Ectodermal dysplasia 2, Clouston type (GJB6 gene, NGS)

  Code 10672 · Next-generation sequencing (NGS)

  Genes: GJB6

  Turnaround time: 33 working days

• Ectodermal dysplasia (5-gene panel, NGS)

  Code 10670 · Next-generation sequencing (NGS)

  Genes: EDA, EDAR, EDARADD, ERCC2, NFKBIA

  Turnaround time: 33 working days

• Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) (CDH3 gene, NGS)

  Code 10671 · Next-generation sequencing (NGS)

  Genes: CDH3

  Turnaround time: 33 working days

• Ectrodactyly, ectodermal dysplasia and cleft palate, EEC syndrome (TP63 gene, NGS)

  Code 10806 · Next-generation sequencing (NGS)

  Genes: TP63

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome (9-gene panel, NGS)

  Code 10808 · Next-generation sequencing (NGS)

  Genes: ADAMTS2, B4GALT7, COL5A1, COL5A2, PLOD1, COL3A1, SLC39A13, COL1A1 and 1 more

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome, classical type (3-gene panel, NGS)

  Code 10807 · Next-generation sequencing (NGS)

  Genes: COL3A1, COL5A1, COL5A2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome, musculocontractural type (CHST14 gene, NGS)

  Code 10818 · Next-generation sequencing (NGS)

  Genes: CHST14

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type III (COL3A1 gene, NGS)

  Code 10812 · Next-generation sequencing (NGS)

  Genes: COL3A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type III (COL5A3 gene, NGS)

  Code 10813 · Next-generation sequencing (NGS)

  Genes: COL5A3

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type III (TNXB gene, NGS)

  Code 10814 · Next-generation sequencing (NGS)

  Genes: TNXB

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type I/type II (classical) (2-gene panel, NGS)

  Code 10809 · Next-generation sequencing (NGS)

  Genes: COL5A1, COL5A2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type I/type II (classical) (COL5A1 gene, NGS)

  Code 10810 · Next-generation sequencing (NGS)

  Genes: COL5A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type I/type II (classical) (COL5A2 gene, NGS)

  Code 10811 · Next-generation sequencing (NGS)

  Genes: COL5A2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type IV (vascular) (COL3A1 gene, NGS)

  Code 10815 · Next-generation sequencing (NGS)

  Genes: COL3A1

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type VIIC (dermatosparaxis) (ADAMTS2 gene, NGS)

  Code 10817 · Next-generation sequencing (NGS)

  Genes: ADAMTS2

  Turnaround time: 33 working days

• Ehlers-Danlos syndrome type VI (PLOD1 gene, NGS)

  Code 10816 · Next-generation sequencing (NGS)

  Genes: PLOD1

  Turnaround time: 33 working days

• Epidermodysplasia verruciformis (gene panel, NGS, CNVs)

  Code 3440 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Epidermodysplasia verruciformis (TMC6 gene, NGS)

  Code 10860 · Next-generation sequencing (NGS)

  Genes: TMC6

  Turnaround time: 33 working days

• Epidermodysplasia verruciformis (TMC8 gene, NGS)

  Code 10859 · Next-generation sequencing (NGS)

  Genes: TMC8

  Turnaround time: 33 working days

• Epidermolysis bullosa simplex (KRT5 gene, NGS)

  Code 10867 · Next-generation sequencing (NGS)

  Genes: KRT5

  Turnaround time: 33 working days

• Epidermolysis bullosa simplex with muscular dystrophy (PLEC gene, NGS)

  Code 10869 · Next-generation sequencing (NGS)

  Genes: PLEC

  Turnaround time: 33 working days