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

77 tests · Page 1 of 3

• 11-beta-hydroxylase deficiency (CYP11B1 gene, sequencing) [congenital adrenal hyperplasia]

  Code 3254 · Sanger sequencing

  Genes: CYP11B1

  Turnaround time: 28 working days

• ABO genotyping

  Code 3305 · PCR

  Genes: Genotipagem ABO

  Turnaround time: 18 working days

• Acquired partial lipodystrophy (Barraquer-Simons syndrome) (LMNB2 gene, NGS)

  Code 11094 · Next-generation sequencing (NGS)

  Genes: LMNB2

  Turnaround time: 33 working days

• Alpha-mannosidosis (MAN2B1 gene, NGS)

  Code 10206 · Next-generation sequencing (NGS)

  Genes: MAN2B1

  Turnaround time: 33 working days

• Ataxia-telangiectasia (ATM gene, NGS)

  Code 10319 · Next-generation sequencing (NGS)

  Genes: ATM

  Turnaround time: 33 working days

• Ataxia-telangiectasia-like disorder (MRE11A gene, NGS)

  Code 10320 · Next-generation sequencing (NGS)

  Genes: MRE11A

  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

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

  Code 11361 · Next-generation sequencing (NGS)

  Genes: AIRE

  Turnaround time: 33 working days

• Blau syndrome (NOD2 gene, NGS)

  Code 10387 · Next-generation sequencing (NGS)

  Genes: NOD2

  Turnaround time: 33 working days

• Bloom syndrome (BLM gene, NGS)

  Code 10389 · Next-generation sequencing (NGS)

  Genes: BLM

  Turnaround time: 33 working days

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

  Code 10391 · Next-generation sequencing (NGS)

  Genes: TFAP2A

  Turnaround time: 33 working days

• Camurati-Engelmann syndrome (TGFB1 gene, NGS)

  Code 10416 · Next-generation sequencing (NGS)

  Genes: TGFB1

  Turnaround time: 33 working days

• Chediak-Higashi syndrome (LYST gene, NGS)

  Code 10472 · Next-generation sequencing (NGS)

  Genes: LYST

  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

• Congenital disorder of glycosylation type 1A (PMM2 gene, NGS)

  Code 10531 · Next-generation sequencing (NGS)

  Genes: PMM2

  Turnaround time: 33 working days

• Congenital disorder of glycosylation type 1B (MPI gene, NGS)

  Code 10532 · Next-generation sequencing (NGS)

  Genes: MPI

  Turnaround time: 33 working days

• Congenital disorder of glycosylation type 1C (ALG6 gene, NGS)

  Code 10533 · Next-generation sequencing (NGS)

  Genes: ALG6

  Turnaround time: 33 working days

• CUBN gene testing (NGS)

  Code 3342 · Next-generation sequencing (NGS)

  Genes: CUBN

  Turnaround time: 33 working days

• Deficiency of the interleukin-1 receptor antagonist (IL1RN gene, NGS)

  Code 10554 · Next-generation sequencing (NGS)

  Genes: IL1RN

  Turnaround time: 33 working days

• DiGeorge syndrome (TBX1 gene, NGS)

  Code 10646 · Next-generation sequencing (NGS)

  Genes: TBX1

  Turnaround time: 33 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

• Epidermodysplasia verruciformis (TMC6 gene, NGS)

  Code 10860 · Next-generation sequencing (NGS)

  Genes: TMC6

  Turnaround time: 33 working days

• Epidermodysplasia verruciformis (TMC8 gene, NGS)

  Code 10859 · Next-generation sequencing (NGS)

  Genes: TMC8

  Turnaround time: 33 working days

• Exome, complete sequencing

  Code 3208 · Next-generation sequencing (NGS)

  Genes: Exoma

  Turnaround time: 75 working days

• Exome without interpretation (data only), NGS

  Code 3326 · Next-generation sequencing (NGS)

  Genes: Exoma sem análise

  Turnaround time: 33 working days

• Familial acute necrotizing encephalopathy (RANBP2 gene, NGS)

  Code 10830 · Next-generation sequencing (NGS)

  Genes: RANBP2

  Turnaround time: 33 working days

• Familial Behçet-like autoinflammatory syndrome (TNFAIP3 gene, NGS)

  Code 10334 · Next-generation sequencing (NGS)

  Genes: TNFAIP3

  Turnaround time: 33 working days

• Familial Hibernian fever (periodic fever, autosomal dominant) (TNFRSF1A gene, NGS)

  Code 10912 · Next-generation sequencing (NGS)

  Genes: TNFRSF1A

  Turnaround time: 33 working days

• Familial Mediterranean fever (MEFV gene, NGS)

  Code 10913 · Next-generation sequencing (NGS)

  Genes: MEFV

  Turnaround time: 33 working days