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

453 tests · Page 6 of 16

• Donnai-Barrow syndrome (6-gene panel, NGS)

  Code 10799 · Next-generation sequencing (NGS)

  Genes: CLCN5, EFNB1, GPSM2, KIF7, LRP2, OCRL

  Turnaround time: 33 working days

• Duane-radial ray syndrome (SALL4 gene, NGS)

  Code 10801 · Next-generation sequencing (NGS)

  Genes: SALL4

  Turnaround time: 33 working days

• Dyggve-Melchior-Clausen syndrome (DYM gene, NGS)

  Code 10803 · Next-generation sequencing (NGS)

  Genes: DYM

  Turnaround time: 33 working days

• Dyskeratosis congenita (8-gene panel, NGS)

  Code 10698 · Next-generation sequencing (NGS)

  Genes: CTC1, DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53

  Turnaround time: 33 working days

• 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

• Dyssegmental dysplasia, Silverman-Handmaker type / Schwartz-Jampel syndrome (HSPG2 gene, NGS)

  Code 10679 · Next-generation sequencing (NGS)

  Genes: HSPG2

  Turnaround time: 33 working days

• Early-onset myopathy, areflexia, respiratory distress, and dysphagia syndrome (EMARDD) (MEGF10 gene, NGS)

  Code 10185 · Next-generation sequencing (NGS)

  Genes: MEGF10

  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

• 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 (COL3A1 gene, NGS)

  Code 3276 · Next-generation sequencing (NGS)

  Genes: COL3A1

  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

• Exclusion of uniparental disomy of chromosome 14

  Code 3054 · Cytogenetic analysis

  Genes: Dissomia uniparental do cromossoma 14

  Turnaround time: 15 working days

• Exclusion of uniparental disomy of chromosome 7

  Code 3063 · Cytogenetic analysis

  Genes: Dissomia uniparental do cromossoma 7

  Turnaround time: 15 working days