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

911 tests · Page 1 of 31

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

  Code 3254 · Sanger sequencing

  Genes: CYP11B1

  Turnaround time: 28 working days

• 11-beta-hydroxysteroid dehydrogenase deficiency (HSD11B2 gene, NGS)

  Code 10540 · Next-generation sequencing (NGS)

  Genes: HSD11B2

  Turnaround time: 33 working days

• 17q21.31 microdeletion syndrome (MAPT gene, NGS)

  Code 11126 · Next-generation sequencing (NGS)

  Genes: MAPT

  Turnaround time: 33 working days

• 21-hydroxylase deficiency (CYP21A2 gene)

  Code 3174 · Sequencing and MLPA

  Genes: CYP21A2

  Turnaround time: 24 working days

• 21-hydroxylase deficiency (CYP21A2 gene, MLPA)

  Code 3354 · MLPA

  Genes: CYP21A2

  Turnaround time: 33 working days

• 2-Hydroxyglutaric aciduria (D2HGDH gene, NGS)

  Code 10126 · Next-generation sequencing (NGS)

  Genes: D2HGDH

  Turnaround time: 33 working days

• 3-M syndrome (COLEC11 gene, NGS)

  Code 10004 · Next-generation sequencing (NGS)

  Genes: COLEC11

  Turnaround time: 33 working days

• 3-M syndrome (CUL7 gene, NGS)

  Code 10003 · Next-generation sequencing (NGS)

  Genes: CUL7

  Turnaround time: 33 working days

• 3-M syndrome (MASP1 gene, NGS)

  Code 10005 · Next-generation sequencing (NGS)

  Genes: MASP1

  Turnaround time: 33 working days

• 3-M syndrome (OBSL1 gene, NGS)

  Code 10002 · Next-generation sequencing (NGS)

  Genes: OBSL1

  Turnaround time: 33 working days

• Aarskog syndrome (FGD1 gene, NGS)

  Code 10095 · Next-generation sequencing (NGS)

  Genes: FGD1

  Turnaround time: 33 working days

• Abetalipoproteinemia (MTTP gene, NGS)

  Code 10096 · Next-generation sequencing (NGS)

  Genes: MTTP

  Turnaround time: 33 working days

• ABO genotyping

  Code 3305 · PCR

  Genes: Genotipagem ABO

  Turnaround time: 18 working days

• Aceruloplasminemia (CP gene, NGS)

  Code 10097 · Next-generation sequencing (NGS)

  Genes: CP

  Turnaround time: 33 working days

• Achondrogenesis type 1B (SLC26A2 gene, NGS)

  Code 10131 · Next-generation sequencing (NGS)

  Genes: SLC26A2

  Turnaround time: 33 working days

• Achondrogenesis type II (COL2A1 gene, NGS)

  Code 10132 · Next-generation sequencing (NGS)

  Genes: COL2A1

  Turnaround time: 33 working days

• Achondroplasia (FGFR3 gene, NGS)

  Code 10137 · Next-generation sequencing (NGS)

  Genes: FGFR3

  Turnaround time: 33 working days

• Achondroplasia, p.Gly375Cys (c.1123G>T) and p.Gly380Arg (c.1138G>A and c.1138G>C) mutations, FGFR3 gene

  Code 10136 · Next-generation sequencing (NGS)

  Genes: FGFR3

  Turnaround time: 33 working days

• Achondroplasia, p.Gly380Arg mutation (c.1138G>A and c.1138G>C), FGFR3 gene

  Code 10135 · Next-generation sequencing (NGS)

  Genes: FGFR3

  Turnaround time: 33 working days

• Acrodysostosis 1 and 2, with or without hormone resistance (2-gene panel, NGS)

  Code 10145 · Next-generation sequencing (NGS)

  Genes: PDE4D, PRKAR1A

  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

• 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

• Adams-Oliver syndrome (RBPJ gene, NGS)

  Code 10157 · Next-generation sequencing (NGS)

  Genes: RBPJ

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (7-gene panel, NGS)

  Code 10188 · Next-generation sequencing (NGS)

  Genes: ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (RNASEH2A gene, NGS)

  Code 10201 · Next-generation sequencing (NGS)

  Genes: RNASEH2A

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (RNASEH2B gene, NGS)

  Code 10200 · Next-generation sequencing (NGS)

  Genes: RNASEH2B

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (RNASEH2C gene, NGS)

  Code 10202 · Next-generation sequencing (NGS)

  Genes: RNASEH2C

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (SAMHD1 gene, NGS)

  Code 10203 · Next-generation sequencing (NGS)

  Genes: SAMHD1

  Turnaround time: 33 working days