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

52 tests · Page 2 of 2

• Griscelli syndrome type 1 (MYO5A gene, NGS)

  Code 10954 · Next-generation sequencing (NGS)

  Genes: MYO5A

  Turnaround time: 33 working days

• Hereditary hearing loss, autosomal recessive (AR) type 28 (TRIOBP gene, sequencing)

  Code 3318 · Sanger sequencing

  Genes: TRIOBP

  Turnaround time: 33 working days

• Mitochondrial diseases (mitochondrial DNA sequencing)

  Code 3353 · Sanger sequencing

  Genes: Sequenciação DNA Mitocondrial

  Turnaround time: 33 working days

• Molecular testing for connexin 26 (GJB2 gene) [familial case]

  Code 3033 · Molecular biology

  Genes: GJB2

  Turnaround time: 15 working days

• Molecular testing for connexin 26 (GJB2 gene) [index case]

  Code 3032 · Molecular biology

  Genes: GJB2

  Turnaround time: 15 working days

• Muckle-Wells syndrome (NLRP3 gene, NGS)

  Code 11142 · Next-generation sequencing (NGS)

  Genes: NLRP3

  Turnaround time: 33 working days

• Neuropathy with hearing impairment (GJB3 gene, NGS)

  Code 11168 · Next-generation sequencing (NGS)

  Genes: GJB3

  Turnaround time: 33 working days

• Nonsyndromic hearing loss and deafness (GJB2 gene, NGS)

  Code 10505 · Next-generation sequencing (NGS)

  Genes: GJB2

  Turnaround time: 33 working days

• Oculopharyngeal muscular dystrophy

  Code 3006 · Molecular biology

  Genes: PABPN1

  Turnaround time: 63 working days

• Opitz-Kaveggia syndrome (MED12 gene, NGS)

  Code 11216 · Next-generation sequencing (NGS)

  Genes: MED12

  Turnaround time: 33 working days

• Otofaciocervical syndrome (EYA1 gene, NGS)

  Code 11233 · Next-generation sequencing (NGS)

  Genes: EYA1

  Turnaround time: 33 working days

• Otopalatodigital syndrome type 2 (FLNA gene, NGS)

  Code 11234 · Next-generation sequencing (NGS)

  Genes: FLNA

  Turnaround time: 33 working days

• Pendred syndrome (SLC26A4 gene, NGS)

  Code 11282 · Next-generation sequencing (NGS)

  Genes: SLC26A4

  Turnaround time: 33 working days

• Perrault syndrome type 3 (CLPP gene, NGS)

  Code 11277 · Next-generation sequencing (NGS)

  Genes: CLPP

  Turnaround time: 33 working days

• Reticular dysgenesis (AK2 gene, NGS)

  Code 10657 · Next-generation sequencing (NGS)

  Genes: AK2

  Turnaround time: 33 working days

• Split-hand/foot malformation 1 with sensorineural hearing loss (DLX5 gene, NGS)

  Code 10061 · Next-generation sequencing (NGS)

  Genes: DLX5

  Turnaround time: 33 working days

• Thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene, NGS)

  Code 10260 · Next-generation sequencing (NGS)

  Genes: SLC19A2

  Turnaround time: 33 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• Usher syndrome (20-gene panel, NGS)

  Code 10079 · Next-generation sequencing (NGS)

  Genes: ABHD12, GPR98, ARSG, CDH23, CIB2, CLRN1, COL4A6, GIPC3 and 12 more

  Turnaround time: 33 working days

• Usher syndrome type 1B (MYO7A gene, NGS)

  Code 10094 · Next-generation sequencing (NGS)

  Genes: MYO7A

  Turnaround time: 33 working days

• Waardenburg syndrome (PAX3 gene, NGS)

  Code 11355 · Next-generation sequencing (NGS)

  Genes: PAX3

  Turnaround time: 33 working days

• Wolfram syndrome / autosomal dominant hearing loss 6/14/38 (WFS1 gene, NGS)

  Code 11359 · Next-generation sequencing (NGS)

  Genes: WFS1

  Turnaround time: 33 working days