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

221 tests · Page 3 of 8

• Congenital cataract (46-gene panel, NGS)

  Code 10084 · Next-generation sequencing (NGS)

  Genes: AGK, ALDH18A1, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1 and 38 more

  Turnaround time: 33 working days

• Congenital fibrosis of the extraocular muscles (4-gene panel, NGS)

  Code 10001 · Next-generation sequencing (NGS)

  Genes: KIF21A, TUBB3, PHOX2A, COL25A1

  Turnaround time: 33 working days

• Congenital fibrosis of the extraocular muscles type 3 (TUBB3 gene, NGS)

  Code 10925 · Next-generation sequencing (NGS)

  Genes: TUBB3

  Turnaround time: 33 working days

• Congenital hereditary endothelial dystrophy type 2 (SLC4A11 gene, NGS)

  Code 10753 · Next-generation sequencing (NGS)

  Genes: SLC4A11

  Turnaround time: 33 working days

• Congenital stationary night blindness (7-gene panel, NGS)

  Code 10075 · Next-generation sequencing (NGS)

  Genes: GNAT1, GNB3, GPR179, GRM6, ITM2B, LRIT3, NYX

  Turnaround time: 33 working days

• Corneal dystrophy (12-gene panel, NGS)

  Code 10747 · Next-generation sequencing (NGS)

  Genes: CHST6, COL8A2, DCN, KRT12, KRT3, LOXHD1, PIKFYVE, SLC4A11 and 4 more

  Turnaround time: 33 working days

• C syndrome (CD96 gene, NGS)

  Code 10403 · Next-generation sequencing (NGS)

  Genes: CD96

  Turnaround time: 33 working days

• Desbuquois syndrome (CANT1 gene, NGS)

  Code 10622 · Next-generation sequencing (NGS)

  Genes: CANT1

  Turnaround time: 33 working days

• Distichiasis, lymphedema, and cleft palate (FOXC2 gene, NGS)

  Code 10731 · Next-generation sequencing (NGS)

  Genes: FOXC2

  Turnaround time: 33 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

• Dominant optic atrophy type 1 (OPA1 gene, NGS)

  Code 10327 · Next-generation sequencing (NGS)

  Genes: OPA1

  Turnaround time: 33 working days

• Dominant optic atrophy type 3 (OPA3 gene, NGS)

  Code 10328 · Next-generation sequencing (NGS)

  Genes: OPA3

  Turnaround time: 33 working days

• Donnai-Barrow syndrome (6-gene panel, NGS)

  Code 10799 · Next-generation sequencing (NGS)

  Genes: CLCN5, EFNB1, GPSM2, KIF7, LRP2, OCRL

  Turnaround time: 33 working days

• Doyne honeycomb retinal dystrophy (EFEMP1 gene, NGS)

  Code 10794 · Next-generation sequencing (NGS)

  Genes: EFEMP1

  Turnaround time: 33 working days

• Doyne retinal dystrophy, p.Arg345Trp mutation, sequencing, EFEMP1 gene

  Code 10793 · Next-generation sequencing (NGS)

  Genes: EFEMP1

  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

• Episodic ataxia (4-gene panel, NGS)

  Code 10303 · Next-generation sequencing (NGS)

  Genes: KCNA1, CACNA1A, CACNB4, SLC1A3

  Turnaround time: 33 working days

• Episodic ataxia type 1 (KCNA1 gene, NGS)

  Code 10304 · Next-generation sequencing (NGS)

  Genes: KCNA1

  Turnaround time: 33 working days

• Episodic ataxia type 2 (CACNA1A gene, NGS)

  Code 10305 · Next-generation sequencing (NGS)

  Genes: CACNA1A

  Turnaround time: 33 working days

• Episodic ataxia type 5 (CACNB4 gene, NGS)

  Code 10306 · Next-generation sequencing (NGS)

  Genes: CACNB4

  Turnaround time: 33 working days

• Episodic ataxia type 6 (SLC1A3 gene, NGS)

  Code 10307 · Next-generation sequencing (NGS)

  Genes: SLC1A3

  Turnaround time: 33 working days

• Ethylmalonic encephalopathy (ETHE1 gene, NGS)

  Code 10843 · Next-generation sequencing (NGS)

  Genes: ETHE1

  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

• Feingold syndrome (MYCN gene, NGS)

  Code 10920 · Next-generation sequencing (NGS)

  Genes: MYCN

  Turnaround time: 33 working days

• Floating-Harbor syndrome (SRCAP gene, NGS)

  Code 10915 · Next-generation sequencing (NGS)

  Genes: SRCAP

  Turnaround time: 33 working days

• Galactokinase deficiency (GALK1 gene, NGS)

  Code 10576 · Next-generation sequencing (NGS)

  Genes: GALK1

  Turnaround time: 33 working days

• GAPO syndrome (ANTXR1 gene, NGS)

  Code 10932 · Next-generation sequencing (NGS)

  Genes: ANTXR1

  Turnaround time: 33 working days

• Genetic testing for metachromatic leukodystrophy

  Code 3083 · Sequencing

  Genes: PSAP

  Turnaround time: 31 working days

• Genetic testing for spastic paraplegia SPG7 (paraplegin)

  Code 3116 · PCR / Sequencing

  Genes: SPG7

  Turnaround time: 35 working days