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

911 tests · Page 6 of 31

• Branchio-oculo-facial syndrome (TFAP2A gene, NGS)

  Code 10391 · Next-generation sequencing (NGS)

  Genes: TFAP2A

  Turnaround time: 33 working days

• Branchio-oto-renal syndrome type 1 (EYA1 gene, NGS)

  Code 10392 · Next-generation sequencing (NGS)

  Genes: EYA1

  Turnaround time: 33 working days

• BRESEK syndrome (MBTPS2 gene, NGS)

  Code 10399 · Next-generation sequencing (NGS)

  Genes: MBTPS2

  Turnaround time: 33 working days

• Bruck syndrome (PLOD2 gene, NGS)

  Code 10400 · Next-generation sequencing (NGS)

  Genes: PLOD2

  Turnaround time: 33 working days

• Brugada syndrome (8-gene panel, NGS)

  Code 3244 · Next-generation sequencing (NGS)

  Genes: SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4

  Turnaround time: 33 working days

• Brugada syndrome type 1 (SCN5A gene, sequencing)

  Code 3272 · Sanger sequencing

  Genes: SCN5A

  Turnaround time: 33 working days

• Campomelic dysplasia (SOX9 gene, NGS)

  Code 10664 · Next-generation sequencing (NGS)

  Genes: SOX9

  Turnaround time: 33 working days

• Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (PRG4 gene, NGS)

  Code 10415 · Next-generation sequencing (NGS)

  Genes: PRG4

  Turnaround time: 33 working days

• Camurati-Engelmann syndrome (TGFB1 gene, NGS)

  Code 10416 · Next-generation sequencing (NGS)

  Genes: TGFB1

  Turnaround time: 33 working days

• Canavan disease (ASPA gene, NGS)

  Code 10418 · Next-generation sequencing (NGS)

  Genes: ASPA

  Turnaround time: 33 working days

• Cantú syndrome (ABCC9 gene, NGS)

  Code 10419 · Next-generation sequencing (NGS)

  Genes: ABCC9

  Turnaround time: 33 working days

• CARASIL (HTRA1 gene, sequencing)

  Code 3246 · Sanger sequencing

  Genes: HTRA1

  Turnaround time: 33 working days

• Cardiofaciocutaneous syndrome (4-gene panel, NGS)

  Code 10421 · Next-generation sequencing (NGS)

  Genes: KRAS, BRAF, MAP2K1, MAP2K2

  Turnaround time: 33 working days

• Carnitine palmitoyltransferase deficiency (2-gene panel, NGS)

  Code 10569 · Next-generation sequencing (NGS)

  Genes: CPT1A, CPT2

  Turnaround time: 33 working days

• Carnitine palmitoyltransferase I deficiency (CPT1A gene, NGS)

  Code 10568 · Next-generation sequencing (NGS)

  Genes: CPT1A

  Turnaround time: 33 working days

• Carnitine palmitoyltransferase II deficiency (CPT2 gene, NGS)

  Code 10570 · Next-generation sequencing (NGS)

  Genes: CPT2

  Turnaround time: 33 working days

• CATCH 22 testing (EDTA whole blood) [DiGeorge syndrome]

  Code 3051 · Cytogenetic analysis

  Genes: FISH deleção da região 22q11.2

  Turnaround time: 12 working days

• Caudal regression syndrome (VANGL1 gene, NGS)

  Code 11330 · Next-generation sequencing (NGS)

  Genes: VANGL1

  Turnaround time: 33 working days

• Cerebellar ataxia [CANVAS] (RFC1 gene repeat expansion)

  Code 3470 · Molecular hybridization (PCR)

  Genes: RFC1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1B (MPZ gene, NGS)

  Code 10437 · Next-generation sequencing (NGS)

  Genes: MPZ

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 1B (PMP22 gene, NGS)

  Code 3536 · Sequencing

  Genes: PMP22

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2E (NEFL gene, NGS)

  Code 10448 · Next-generation sequencing (NGS)

  Genes: NEFL

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 2J (MPZ gene, NGS)

  Code 10450 · Next-generation sequencing (NGS)

  Genes: MPZ

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4A (GDAP1 gene, NGS)

  Code 10454 · Next-generation sequencing (NGS)

  Genes: GDAP1

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4E (EGR2 gene, NGS)

  Code 10461 · Next-generation sequencing (NGS)

  Genes: EGR2

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4E (MPZ gene, NGS)

  Code 10460 · Next-generation sequencing (NGS)

  Genes: MPZ

  Turnaround time: 33 working days

• Charcot-Marie-Tooth disease type 4E (PMP22 gene, NGS)

  Code 10462 · Next-generation sequencing (NGS)

  Genes: PMP22

  Turnaround time: 33 working days

• CHARGE syndrome (CHD7 gene, NGS)

  Code 10471 · Next-generation sequencing (NGS)

  Genes: CHD7

  Turnaround time: 33 working days

• Char syndrome (TFAP2B gene, NGS)

  Code 10435 · Next-generation sequencing (NGS)

  Genes: TFAP2B

  Turnaround time: 33 working days

• Chediak-Higashi syndrome (LYST gene, NGS)

  Code 10472 · Next-generation sequencing (NGS)

  Genes: LYST

  Turnaround time: 33 working days