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

197 tests · Page 7 of 7

• Renal glucosuria (SLC5A2 gene, sequencing)

  Code 3294 · Sanger sequencing

  Genes: SLC5A2

  Turnaround time: 33 working days

• Schaaf-Yang syndrome (MAGEL2 gene, NGS)

  Code 11339 · Next-generation sequencing (NGS)

  Genes: MAGEL2

  Turnaround time: 33 working days

• Septin 9 gene testing (mSept9)

  Code 3068 · PCR

  Genes: Septina 9 (mSept9)

  Turnaround time: 45 working days

• Smith-Lemli-Opitz syndrome (DHCR7 gene, NGS)

  Code 10093 · Next-generation sequencing (NGS)

  Genes: DHCR7

  Turnaround time: 33 working days

• Sport gene Profile Cardio (13 SNPs)

  Code 3092 · SNaPshot

  Genes: 13 SNPs

  Turnaround time: 33 working days

• Sport gene Profile Complete (34 SNPs)

  Code 3091 · SNaPshot

  Genes: 34 SNPs

  Turnaround time: 23 working days

• Sport gene Profile Detox (23 SNPs)

  Code 3093 · SNaPshot

  Genes: 23 SNPs

  Turnaround time: 33 working days

• Sport gene Profile Sudden Death (12 mutations)

  Code 3094 · SNaPshot

  Genes: 12 mutações

  Turnaround time: 33 working days

• Testing for large deletions/duplications (MLPA) - APC

  Code 4114 · MLPA

  Genes: APC

  Turnaround time: 15 working days

• Testing for large deletions/duplications (MLPA) - BRAF

  Code 4108 · MLPA

  Genes: BRAF

  Turnaround time: 15 working days

• Testing for large deletions/duplications (MLPA) - CDH1

  Code 4102 · MLPA

  Genes: CDH1

  Turnaround time: 15 working days

• Transthyretin mutation (TTR gene, Met 30)

  Code 3036 · Sequencing

  Genes: TTR

  Turnaround time: 63 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• Tyrosinemia (3-gene panel, NGS)

  Code 10181 · Next-generation sequencing (NGS)

  Genes: FAH, HPD, RHBDF2

  Turnaround time: 33 working days

• Variegate porphyria (PPOX gene, NGS)

  Code 11303 · Next-generation sequencing (NGS)

  Genes: PPOX

  Turnaround time: 33 working days

• Wilson disease (ATP7B gene, NGS)

  Code 4240 · Next-generation sequencing (NGS)

  Genes: ATP7B

  Turnaround time: 30 working days

• X-linked agammaglobulinemia (BTK gene, NGS)

  Code 10176 · Next-generation sequencing (NGS)

  Genes: BTK

  Turnaround time: 33 working days