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 2 of 31

• Aicardi-Goutières syndrome (TREX1 gene, NGS)

  Code 10199 · Next-generation sequencing (NGS)

  Genes: TREX1

  Turnaround time: 33 working days

• Alagille syndrome type 1 (JAG1 gene, NGS)

  Code 10190 · Next-generation sequencing (NGS)

  Genes: JAG1

  Turnaround time: 33 working days

• Alagille syndrome type 2 (NOTCH2 gene, NGS)

  Code 10191 · Next-generation sequencing (NGS)

  Genes: NOTCH2

  Turnaround time: 33 working days

• Alagille syndrome type 2 (NOTCH2 gene, NGS)

  Code 3345 · Next-generation sequencing (NGS)

  Genes: NOTCH2

  Turnaround time: 33 working days

• Alagille syndrome types 1 and 2 (2-gene panel, NGS)

  Code 10192 · Next-generation sequencing (NGS)

  Genes: JAG1, NOTCH2

  Turnaround time: 33 working days

• Albinism, isolated and syndromic forms (18-gene panel, NGS)

  Code 10194 · Next-generation sequencing (NGS)

  Genes: GPR143, OCA2, SLC45A2, TYRP1, MC1R, SLC24A5, LYST, HPS1 and 10 more

  Turnaround time: 33 working days

• Aldolase B (ALDOB) gene mutation testing

  Code 3028 · Molecular biology

  Genes: ALDOB

  Turnaround time: 11 working days

• Alexander disease (GFAP gene, NGS)

  Code 10204 · Next-generation sequencing (NGS)

  Genes: GFAP

  Turnaround time: 33 working days

• Allan-Herndon-Dudley syndrome (SLC16A2 gene, NGS)

  Code 10220 · Next-generation sequencing (NGS)

  Genes: SLC16A2

  Turnaround time: 33 working days

• Allgrove syndrome (AAAS gene, NGS)

  Code 10208 · Next-generation sequencing (NGS)

  Genes: AAAS

  Turnaround time: 33 working days

• Alpha-mannosidosis (MAN2B1 gene, NGS)

  Code 10206 · Next-generation sequencing (NGS)

  Genes: MAN2B1

  Turnaround time: 33 working days

• Alpha-thalassemia (2-gene panel, NGS)

  Code 10207 · Next-generation sequencing (NGS)

  Genes: HBA1, HBA2

  Turnaround time: 33 working days

• Alport syndrome (3-gene panel, NGS)

  Code 10211 · Next-generation sequencing (NGS)

  Genes: COL4A3, COL4A4, COL4A5

  Turnaround time: 33 working days

• Alport syndrome (COL4A3 gene, NGS)

  Code 10212 · Next-generation sequencing (NGS)

  Genes: COL4A3

  Turnaround time: 33 working days

• Alport syndrome (COL4A4 gene, NGS)

  Code 10213 · Next-generation sequencing (NGS)

  Genes: COL4A4

  Turnaround time: 33 working days

• Alport syndrome (gene panel, NGS)

  Code 3506 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Alport syndrome (X-linked) (COL4A5 gene, NGS)

  Code 10214 · Next-generation sequencing (NGS)

  Genes: COL4A5

  Turnaround time: 33 working days

• Alternating hemiplegia of childhood (5-gene panel, NGS)

  Code 10030 · Next-generation sequencing (NGS)

  Genes: ATP1A2, ATP1A3, CACNA1A, SLC1A3, SLC2A1

  Turnaround time: 33 working days

• Alternating hemiplegia of childhood type 1 (ATP1A2 gene, NGS)

  Code 10956 · Next-generation sequencing (NGS)

  Genes: ATP1A2

  Turnaround time: 33 working days

• Alternating hemiplegia of childhood type 2 (ATP1A3 gene, NGS)

  Code 10957 · Next-generation sequencing (NGS)

  Genes: ATP1A3

  Turnaround time: 33 working days

• Ambiguous genitalia (46-gene panel, NGS)

  Code 10069 · Next-generation sequencing (NGS)

  Genes: AMH, AMHR2, AR, ARX, ATRX, BCOR, CDKN1C, CEP41 and 38 more

  Turnaround time: 33 working days

• AMH and AMHR2 gene testing (NGS)

  Code 3501 · Next-generation sequencing (NGS)

  Genes: AMH, AMHR2

  Turnaround time: 33 working days

• AMN gene testing (sequencing)

  Code 3343 · Sanger sequencing

  Genes: AMN

  Turnaround time: 33 working days

• Amyloid polyneuropathy (20-gene panel, NGS)

  Code 3364 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 25 working days

• Amyotrophic lateral sclerosis (23-gene panel, NGS)

  Code 3240 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Amyotrophic lateral sclerosis (C9orf72 gene, NGS)

  Code 10897 · Next-generation sequencing (NGS)

  Genes: C9orf72

  Turnaround time: 33 working days

• Andermann syndrome, c.2436delC mutation, SLC12A6 gene sequencing

  Code 10236 · Next-generation sequencing (NGS)

  Genes: SLC12A6

  Turnaround time: 33 working days

• Andersen syndrome (KCNJ2 gene, NGS)

  Code 10237 · Next-generation sequencing (NGS)

  Genes: KCNJ2

  Turnaround time: 33 working days

• Angelman syndrome (UBE3A gene, NGS)

  Code 10270 · Next-generation sequencing (NGS)

  Genes: UBE3A

  Turnaround time: 33 working days

• Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema (IKBKG gene, NGS)

  Code 10677 · Next-generation sequencing (NGS)

  Genes: IKBKG

  Turnaround time: 33 working days