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

197 tests · Page 1 of 7

• Acute intermittent porphyria (HMBS gene, NGS)

  Code 11299 · Next-generation sequencing (NGS)

  Genes: HMBS

  Turnaround time: 33 working days

• Acyl-CoA dehydrogenase enzyme deficiency (ACADM gene, NGS)

  Code 10549 · Next-generation sequencing (NGS)

  Genes: ACADM

  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 types 1 and 2 (2-gene panel, NGS)

  Code 10192 · Next-generation sequencing (NGS)

  Genes: JAG1, NOTCH2

  Turnaround time: 33 working days

• Aldolase B (ALDOB) gene mutation testing

  Code 3028 · Molecular biology

  Genes: ALDOB

  Turnaround time: 11 working days

• Allgrove syndrome (AAAS gene, NGS)

  Code 10208 · Next-generation sequencing (NGS)

  Genes: AAAS

  Turnaround time: 33 working days

• Alpha-1 antitrypsin deficiency (SERPINA1 gene, NGS)

  Code 10205 · Next-generation sequencing (NGS)

  Genes: SERPINA1

  Turnaround time: 33 working days

• Alström syndrome (ALMS1 gene, NGS)

  Code 10215 · Next-generation sequencing (NGS)

  Genes: ALMS1

  Turnaround time: 33 working days

• AMACR deficiency (AMACR gene, NGS)

  Code 10541 · Next-generation sequencing (NGS)

  Genes: AMACR

  Turnaround time: 33 working days

• Amyloid polyneuropathy (20-gene panel, NGS)

  Code 3364 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 25 working days

• Antley-Bixler type 1, ambiguous genitalia, disordered steroidogenesis (POR gene, NGS)

  Code 10283 · Next-generation sequencing (NGS)

  Genes: POR

  Turnaround time: 33 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

• Apolipoprotein A4 deficiency (APOA4 gene, NGS)

  Code 10542 · Next-generation sequencing (NGS)

  Genes: APOA4

  Turnaround time: 33 working days

• Apolipoprotein C-II deficiency (APOC2 gene, NGS)

  Code 10543 · Next-generation sequencing (NGS)

  Genes: APOC2

  Turnaround time: 33 working days

• Autoimmune polyendocrine syndrome type 1 (AIRE gene, NGS)

  Code 11361 · Next-generation sequencing (NGS)

  Genes: AIRE

  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 recurrent intrahepatic cholestasis (ABCB11 gene, NGS)

  Code 10496 · Next-generation sequencing (NGS)

  Genes: ABCB11

  Turnaround time: 33 working days

• BNAR syndrome (FREM1 gene, NGS)

  Code 10390 · Next-generation sequencing (NGS)

  Genes: FREM1

  Turnaround time: 33 working days

• BRAF V600 - liquid biopsy

  Code 4459 · Real-time PCR

  Genes: BRAF, V600

  Turnaround time: 30 working days

• BRAF V600 - tissue biopsy

  Code 4458 · Real-time PCR

  Genes: BRAF, V600

  Turnaround time: 30 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

• Chronic granulomatous disease (2-gene panel, NGS)

  Code 10953 · Next-generation sequencing (NGS)

  Genes: NCF2, CYBB

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• Colon somatic panel, liquid biopsy

  Code 4434 · Next-generation sequencing (NGS)

  Genes: hotspots mutacionais de KRAS, NRAS, BRAF, PIK3CA and AKT1

  Turnaround time: 30 working days

• Colon somatic panel, tissue biopsy

  Code 4433 · Next-generation sequencing (NGS)

  Genes: hotspots mutacionais de KRAS, NRAS, BRAF, PIK3CA and AKT1

  Turnaround time: 30 working days

• Combined lipase deficiency (LMF1 gene, NGS)

  Code 10536 · Next-generation sequencing (NGS)

  Genes: LMF1

  Turnaround time: 33 working days

• Complete cystic fibrosis (CFTR) gene testing

  Code 3074 · Sequencing

  Genes: CFTR

  Turnaround time: 48 working days

• Congenital chloride diarrhea (SLC26A3 gene, NGS)

  Code 10642 · Next-generation sequencing (NGS)

  Genes: SLC26A3

  Turnaround time: 33 working days