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

151 tests · Page 5 of 6

• Primary ciliary dyskinesia 17 (CCDC103 gene, NGS)

  Code 10721 · Next-generation sequencing (NGS)

  Genes: CCDC103

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 18 (DNAAF5 gene, NGS)

  Code 10722 · Next-generation sequencing (NGS)

  Genes: DNAAF5

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 19 (LRRC6 gene, NGS)

  Code 10723 · Next-generation sequencing (NGS)

  Genes: LRRC6

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 1 (DNAI1 gene, NGS)

  Code 10707 · Next-generation sequencing (NGS)

  Genes: DNAI1

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 20 (CCDC114 gene, NGS)

  Code 10724 · Next-generation sequencing (NGS)

  Genes: CCDC114

  Turnaround time: 33 working days

• Primary ciliary dyskinesia (20-gene panel, NGS)

  Code 10706 · Next-generation sequencing (NGS)

  Genes: ARMC4, CCDC103, CCDC114, CCDC39, CCDC40, DNAAF1, DNAAF2, DNAAF3 and 12 more

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 22 (ZMYND10 gene, NGS)

  Code 10725 · Next-generation sequencing (NGS)

  Genes: ZMYND10

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 2 (DNAAF3 gene, NGS)

  Code 10708 · Next-generation sequencing (NGS)

  Genes: DNAAF3

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 3 (DNAH5 gene, NGS)

  Code 10709 · Next-generation sequencing (NGS)

  Genes: DNAH5

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 6 (NME8 gene, NGS)

  Code 10711 · Next-generation sequencing (NGS)

  Genes: NME8

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 7 (DNAH11 gene, NGS)

  Code 10712 · Next-generation sequencing (NGS)

  Genes: DNAH11

  Turnaround time: 33 working days

• Primary ciliary dyskinesia 9 (DNAI2 gene, NGS)

  Code 10713 · Next-generation sequencing (NGS)

  Genes: DNAI2

  Turnaround time: 33 working days

• Pulmonary arterial hypertension (WES-based panel, NGS, CNVs)

  Code 3457 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Pulmonary surfactant deficiency (5-gene panel, NGS)

  Code 10593 · Next-generation sequencing (NGS)

  Genes: SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (ABCA3 gene, NGS)

  Code 10594 · Next-generation sequencing (NGS)

  Genes: ABCA3

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (CSF2RB gene, NGS)

  Code 10595 · Next-generation sequencing (NGS)

  Genes: CSF2RB

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (SFTPB gene, NGS)

  Code 10597 · Next-generation sequencing (NGS)

  Genes: SFTPB

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (SFTPC gene, NGS)

  Code 10598 · Next-generation sequencing (NGS)

  Genes: SFTPC

  Turnaround time: 33 working days

• Pulmonary veno-occlusive disease (BMPR2 gene, NGS)

  Code 10857 · Next-generation sequencing (NGS)

  Genes: BMPR2

  Turnaround time: 33 working days

• Pulmonary veno-occlusive disease (EIF2AK3 gene, NGS)

  Code 10858 · Next-generation sequencing (NGS)

  Genes: EIF2AK3

  Turnaround time: 33 working days

• Pyogenic arthritis, pyoderma gangrenosum, acne (PSTPIP1 gene, NGS)

  Code 10289 · Next-generation sequencing (NGS)

  Genes: PSTPIP1

  Turnaround time: 33 working days

• SERPINA1 gene mutation testing

  Code 3104 · PCR / Sequencing

  Genes: SERPINA1

  Turnaround time: 33 working days

• Serum alpha-1 antitrypsin (genotype) (PCR)

  Code 1078 · PCR

  Genes: AFP

  Turnaround time: 24 working days

• Sitosterolemia (2-gene panel, NGS)

  Code 10928 · Next-generation sequencing (NGS)

  Genes: ABCG5, ABCG8

  Turnaround time: 33 working days

• Smith-Lemli-Opitz syndrome (DHCR7 gene, NGS)

  Code 10093 · Next-generation sequencing (NGS)

  Genes: DHCR7

  Turnaround time: 33 working days

• Spinal muscular atrophy with respiratory distress (IGHMBP2 gene, NGS)

  Code 10324 · Next-generation sequencing (NGS)

  Genes: IGHMBP2

  Turnaround time: 33 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• Tuberous sclerosis complex (2-gene panel, NGS)

  Code 10907 · Next-generation sequencing (NGS)

  Genes: TSC1, TSC2

  Turnaround time: 33 working days

• Tuberous sclerosis complex (TSC1 gene, NGS)

  Code 10906 · Next-generation sequencing (NGS)

  Genes: TSC1

  Turnaround time: 33 working days

• Tuberous sclerosis complex (TSC2 gene, NGS)

  Code 10905 · Next-generation sequencing (NGS)

  Genes: TSC2

  Turnaround time: 33 working days