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 1 of 6

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

  Code 10205 · Next-generation sequencing (NGS)

  Genes: SERPINA1

  Turnaround time: 33 working days

• Antley-Bixler syndrome (FGFR2 gene, NGS)

  Code 10282 · Next-generation sequencing (NGS)

  Genes: FGFR2

  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

• Autoimmune interstitial lung, joint, and kidney disease (COPA gene, NGS)

  Code 10333 · Next-generation sequencing (NGS)

  Genes: COPA

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome, c.1285delC and c.1285dupC mutations, FLCN gene

  Code 10376 · Next-generation sequencing (NGS)

  Genes: FLCN

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (c.1285 mutation)

  Code 3143 · Sequencing

  Genes: FLCN

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (familial variant)

  Code 3144 · Sequencing

  Genes: FLCN

  Turnaround time: 24 working days

• Birt-Hogg-Dubé syndrome (FLCN gene, 14 exons, sequencing)

  Code 3299 · Sanger sequencing

  Genes: FLCN, 14 exões

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (FLCN gene, NGS)

  Code 10377 · Next-generation sequencing (NGS)

  Genes: FLCN

  Turnaround time: 33 working days

• Bloom syndrome (BLM gene, NGS)

  Code 10389 · Next-generation sequencing (NGS)

  Genes: BLM

  Turnaround time: 33 working days

• Butyrylcholinesterase deficiency (BCHE gene, NGS)

  Code 10567 · Next-generation sequencing (NGS)

  Genes: BCHE

  Turnaround time: 33 working days

• CHILD syndrome (NSDHL gene, NGS)

  Code 10473 · Next-generation sequencing (NGS)

  Genes: NSDHL

  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

• CINCA syndrome (neonatal-onset multisystem inflammatory disease) (NLRP3 gene, NGS)

  Code 10475 · Next-generation sequencing (NGS)

  Genes: NLRP3

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• Complete cystic fibrosis (CFTR) gene testing

  Code 3074 · Sequencing

  Genes: CFTR

  Turnaround time: 48 working days

• Congenital central hypoventilation syndrome (18-gene panel, NGS)

  Code 10031 · Next-generation sequencing (NGS)

  Genes: ASCL1, BDNF, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ and 10 more

  Turnaround time: 33 working days

• Costello syndrome (HRAS gene, NGS)

  Code 10519 · Next-generation sequencing (NGS)

  Genes: HRAS

  Turnaround time: 33 working days

• Cystic fibrosis and differential diagnosis (5-gene panel, NGS)

  Code 10911 · Next-generation sequencing (NGS)

  Genes: CA12, CFTR, SCNN1A, SCNN1B, SCNN1G

  Turnaround time: 33 working days

• Cystic fibrosis (phase I: common variants)

  Code 3022 · PCR

  Genes: CFTR

  Turnaround time: 15 working days

• Desminopathy (DES gene, NGS)

  Code 10626 · Next-generation sequencing (NGS)

  Genes: DES

  Turnaround time: 33 working days

• DICER1 syndrome (pleuropulmonary blastoma) (DICER1 gene, NGS)

  Code 10060 · Next-generation sequencing (NGS)

  Genes: DICER1

  Turnaround time: 33 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

• Early-onset myopathy, areflexia, respiratory distress, and dysphagia syndrome (EMARDD) (MEGF10 gene, NGS)

  Code 10185 · Next-generation sequencing (NGS)

  Genes: MEGF10

  Turnaround time: 33 working days

• Ectrodactyly, ectodermal dysplasia and cleft palate, EEC syndrome (TP63 gene, NGS)

  Code 10806 · Next-generation sequencing (NGS)

  Genes: TP63

  Turnaround time: 33 working days

• EGFR 29 mutations - liquid biopsy

  Code 4451 · Real-time PCR

  Genes: EGFR 29

  Turnaround time: 30 working days

• EGFR 29 mutations - tissue biopsy

  Code 4450 · Real-time PCR

  Genes: EGFR 29

  Turnaround time: 30 working days

• EGFR T790M - liquid biopsy

  Code 4453 · Real-time PCR

  Genes: EGFR, T790M

  Turnaround time: 30 working days

• EGFR T790M, liquid biopsy, dPCR

  Code 4464 · Digital PCR

  Genes: EGFR, T790M

  Turnaround time: 30 working days

• EGFR T790M - tissue biopsy

  Code 4452 · Real-time PCR

  Genes: EGFR, T790M

  Turnaround time: 30 working days