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

125 tests · Page 2 of 5

• BNAR syndrome (FREM1 gene, NGS)

  Code 10390 · Next-generation sequencing (NGS)

  Genes: FREM1

  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

• Branchio-oto-renal syndrome type 1 (EYA1 gene, NGS)

  Code 10392 · Next-generation sequencing (NGS)

  Genes: EYA1

  Turnaround time: 33 working days

• BRESEK syndrome (MBTPS2 gene, NGS)

  Code 10399 · Next-generation sequencing (NGS)

  Genes: MBTPS2

  Turnaround time: 33 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

• CHARGE syndrome (CHD7 gene, NGS)

  Code 10471 · Next-generation sequencing (NGS)

  Genes: CHD7

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• COL4A1 and COL4A2 gene testing (NGS)

  Code 3303 · Next-generation sequencing (NGS)

  Genes: COL4A1, COL4A2

  Turnaround time: 33 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

• Congenital sucrase-isomaltase deficiency (SI gene, NGS)

  Code 3327 · Next-generation sequencing (NGS)

  Genes: SI

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (5-gene panel, NGS)

  Code 10514 · Next-generation sequencing (NGS)

  Genes: HDAC8, NIPBL, RAD21, SMC1A, SMC3

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (NIPBL gene, NGS)

  Code 10515 · Next-generation sequencing (NGS)

  Genes: NIPBL

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (SMC1A gene, NGS)

  Code 10516 · Next-generation sequencing (NGS)

  Genes: SMC1A

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (SMC3 gene, NGS)

  Code 10517 · Next-generation sequencing (NGS)

  Genes: SMC3

  Turnaround time: 33 working days

• Corticosterone methyloxidase type I deficiency (CYP11B2 gene, NGS)

  Code 10545 · Next-generation sequencing (NGS)

  Genes: CYP11B2

  Turnaround time: 33 working days

• Costello syndrome (HRAS gene, NGS)

  Code 10519 · Next-generation sequencing (NGS)

  Genes: HRAS

  Turnaround time: 33 working days

• Cystic kidney diseases (46-gene panel, NGS)

  Code 11297 · Next-generation sequencing (NGS)

  Genes: AHI1, ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2 and 38 more

  Turnaround time: 33 working days

• Cystinosis (CTNS gene, NGS)

  Code 10476 · Next-generation sequencing (NGS)

  Genes: CTNS

  Turnaround time: 33 working days

• Cystinuria (2-gene panel, NGS)

  Code 10479 · Next-generation sequencing (NGS)

  Genes: SLC3A1, SLC7A9

  Turnaround time: 33 working days

• Cystinuria (SLC3A1 gene, NGS)

  Code 10477 · Next-generation sequencing (NGS)

  Genes: SLC3A1

  Turnaround time: 33 working days

• Cystinuria (SLC7A9 gene, NGS)

  Code 10478 · Next-generation sequencing (NGS)

  Genes: SLC7A9

  Turnaround time: 33 working days

• Dent disease (2-gene panel, NGS)

  Code 10619 · Next-generation sequencing (NGS)

  Genes: CLCN5, OCRL

  Turnaround time: 33 working days

• Dent disease (CLCN5 gene, NGS)

  Code 10617 · Next-generation sequencing (NGS)

  Genes: CLCN5

  Turnaround time: 33 working days

• Dent disease (OCRL gene, NGS)

  Code 10618 · Next-generation sequencing (NGS)

  Genes: OCRL

  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