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

237 tests · Page 1 of 8

• Adams-Oliver syndrome (8-gene panel, NGS)

  Code 10160 · Next-generation sequencing (NGS)

  Genes: ARHGAP31, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, RBPJ, UBR1

  Turnaround time: 33 working days

• Adams-Oliver syndrome (ARHGAP31 gene, NGS)

  Code 10155 · Next-generation sequencing (NGS)

  Genes: ARHGAP31

  Turnaround time: 33 working days

• Adams-Oliver syndrome (DOCK6 gene, NGS)

  Code 10156 · Next-generation sequencing (NGS)

  Genes: DOCK6

  Turnaround time: 33 working days

• Alagille syndrome type 1 (JAG1 gene, NGS)

  Code 10190 · Next-generation sequencing (NGS)

  Genes: JAG1

  Turnaround time: 33 working days

• Alagille syndrome type 2 (NOTCH2 gene, NGS)

  Code 3345 · Next-generation sequencing (NGS)

  Genes: NOTCH2

  Turnaround time: 33 working days

• Alagille syndrome types 1 and 2 (2-gene panel, NGS)

  Code 10192 · Next-generation sequencing (NGS)

  Genes: JAG1, NOTCH2

  Turnaround time: 33 working days

• Allgrove syndrome (AAAS gene, NGS)

  Code 10208 · Next-generation sequencing (NGS)

  Genes: AAAS

  Turnaround time: 33 working days

• Alström syndrome (ALMS1 gene, NGS)

  Code 10215 · Next-generation sequencing (NGS)

  Genes: ALMS1

  Turnaround time: 33 working days

• Andersen syndrome (KCNJ2 gene, NGS)

  Code 10237 · Next-generation sequencing (NGS)

  Genes: KCNJ2

  Turnaround time: 33 working days

• Antley-Bixler syndrome (FGFR2 gene, NGS)

  Code 10282 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• Aortopathies and connective tissue disorders (WES-based panel, NGS, CNVs)

  Code 3459 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations, FGFR2 gene sequencing

  Code 10284 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• Apo A full gene sequencing

  Code 3127 · PCR / Sequencing

  Genes: APOA/LPA

  Turnaround time: 33 working days

• ApoB gene mutation testing (3 mutations)

  Code 3128 · Sanger sequencing

  Genes: APOB

  Turnaround time: 28 working days

• Arrhythmogenic cardiomyopathy (gene panel, NGS)

  Code 3413 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Arrhythmogenic cardiomyopathy (WES-based panel, NGS, CNVs)

  Code 3463 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Arrhythmogenic right ventricular cardiomyopathy (ARVC) (7-gene panel, NGS)

  Code 10426 · Next-generation sequencing (NGS)

  Genes: DSC2, DSG2, TMEM43, PKP2, DSP, RYR2, JUP

  Turnaround time: 33 working days

• Arrhythmogenic right ventricular dysplasia / Catecholaminergic polymorphic ventricular tachycardia (RYR2 gene, NGS)

  Code 10063 · Next-generation sequencing (NGS)

  Genes: RYR2

  Turnaround time: 33 working days

• Atrial septal defects (GATA4 gene, NGS)

  Code 10535 · Next-generation sequencing (NGS)

  Genes: GATA4

  Turnaround time: 33 working days

• Atrioventricular canal defect (GATA4 gene, NGS)

  Code 10280 · Next-generation sequencing (NGS)

  Genes: GATA4

  Turnaround time: 33 working days

• Axenfeld-Rieger syndrome type 3 (FOXC1 gene, NGS)

  Code 10346 · Next-generation sequencing (NGS)

  Genes: FOXC1

  Turnaround time: 33 working days

• Beals syndrome (congenital contractural arachnodactyly) (FBN2 gene, NGS)

  Code 10369 · Next-generation sequencing (NGS)

  Genes: FBN2

  Turnaround time: 33 working days

• Beckwith-Wiedemann syndrome (CDKN1C gene, NGS)

  Code 10370 · Next-generation sequencing (NGS)

  Genes: CDKN1C

  Turnaround time: 33 working days

• Benign familial hypobetalipoproteinemia (PCSK9 gene, NGS)

  Code 11006 · Next-generation sequencing (NGS)

  Genes: PCSK9

  Turnaround time: 33 working days

• BRAF gene mutation analysis

  Code 3072 · PCR

  Genes: BRAF

  Turnaround time: 13 working days

• Brugada syndrome (21-gene panel, NGS)

  Code 10402 · Next-generation sequencing (NGS)

  Genes: ANK2, ANK3, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, GPD1L and 12 more

  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 (SCN5A gene, NGS)

  Code 10401 · Next-generation sequencing (NGS)

  Genes: SCN5A

  Turnaround time: 33 working days

• Brugada syndrome type 1 (SCN5A gene, sequencing)

  Code 3272 · Sanger sequencing

  Genes: SCN5A

  Turnaround time: 33 working days

• Brugada syndrome (WES-based panel, NGS, CNVs)

  Code 3462 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days