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

258 tests · Page 3 of 9

• 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

• Emberger syndrome (GATA2 gene, NGS)

  Code 10823 · Next-generation sequencing (NGS)

  Genes: GATA2

  Turnaround time: 33 working days

• EPOR gene testing (sequencing)

  Code 3361 · Sanger sequencing

  Genes: EPOR

  Turnaround time: 15 working days

• Epstein syndrome (MYH9 gene, NGS)

  Code 10627 · Next-generation sequencing (NGS)

  Genes: MYH9

  Turnaround time: 33 working days

• Erythropoietic protoporphyria (FECH gene, NGS)

  Code 11307 · Next-generation sequencing (NGS)

  Genes: FECH

  Turnaround time: 33 working days

• Exome, complete sequencing

  Code 3208 · Next-generation sequencing (NGS)

  Genes: Exoma

  Turnaround time: 75 working days

• Exome without interpretation (data only), NGS

  Code 3326 · Next-generation sequencing (NGS)

  Genes: Exoma sem análise

  Turnaround time: 33 working days

• Factor VIII full gene sequencing

  Code 3158 · Sequencing

  Genes: F8

  Turnaround time: 33 working days

• Factor V Leiden (F5 gene, NGS)

  Code 10918 · Next-generation sequencing (NGS)

  Genes: F5

  Turnaround time: 33 working days

• Factor V Leiden gene mutation (1691G>A mutation)

  Code 908 · PCR

  Genes: F5

  Turnaround time: 8 working days

• Factor XIII deficiency [Val34Leu mutation] (F13A1 gene, sequencing)

  Code 3332 · Sanger sequencing

  Genes: mutação Val34Leu gene F13A1

  Turnaround time: 33 working days

• Familial Behçet-like autoinflammatory syndrome (TNFAIP3 gene, NGS)

  Code 10334 · Next-generation sequencing (NGS)

  Genes: TNFAIP3

  Turnaround time: 33 working days

• Familial dysfibrinogenemia (FGA gene, NGS)

  Code 10651 · Next-generation sequencing (NGS)

  Genes: FGA

  Turnaround time: 33 working days

• Familial dysfibrinogenemia (FGB gene, NGS)

  Code 10650 · Next-generation sequencing (NGS)

  Genes: FGB

  Turnaround time: 33 working days

• Familial dysfibrinogenemia (FGG gene, NGS)

  Code 10652 · Next-generation sequencing (NGS)

  Genes: FGG

  Turnaround time: 33 working days

• Familial/hereditary erythrocytosis (9-gene panel, NGS)

  Code 10064 · Next-generation sequencing (NGS)

  Genes: BPGM, EGLN1, EPAS1, EPO, EPOR, HBB, JAK2, SH2B3 and 1 more

  Turnaround time: 33 working days

• Familial thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome (ADAMTS13 gene, NGS)

  Code 11325 · Next-generation sequencing (NGS)

  Genes: ADAMTS13

  Turnaround time: 33 working days

• Fanconi anemia (18-gene panel, NGS)

  Code 10253 · Next-generation sequencing (NGS)

  Genes: BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 and 10 more

  Turnaround time: 33 working days

• Fanconi anemia (BRIP1 gene, NGS)

  Code 10243 · Next-generation sequencing (NGS)

  Genes: BRIP1

  Turnaround time: 33 working days

• Fanconi anemia (FANCA gene, NGS)

  Code 10239 · Next-generation sequencing (NGS)

  Genes: FANCA

  Turnaround time: 33 working days

• Fanconi anemia (FANCB gene, NGS)

  Code 10247 · Next-generation sequencing (NGS)

  Genes: FANCB

  Turnaround time: 33 working days

• Fanconi anemia (FANCC gene, NGS)

  Code 10240 · Next-generation sequencing (NGS)

  Genes: FANCC

  Turnaround time: 33 working days

• Fanconi anemia (FANCE gene, NGS)

  Code 10248 · Next-generation sequencing (NGS)

  Genes: FANCE

  Turnaround time: 33 working days