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

617 tests · Page 2 of 21

• 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

• ALS/Frontotemporal dementia and syndromes included in the differential diagnosis (48-gene panel, NGS)

  Code 10016 · Next-generation sequencing (NGS)

  Genes: ALS2, ANG, ANXA11, ATL1, ATXN2, BSCL2, CCNF, CHCHD10 and 40 more

  Turnaround time: 33 working days

• Alström syndrome (ALMS1 gene, NGS)

  Code 10215 · Next-generation sequencing (NGS)

  Genes: ALMS1

  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 (29-gene panel, NGS)

  Code 3264 · Next-generation sequencing (NGS)

  Genes: ALS2, ANG, ATXN2, C9orf72, CHCHD10, CHMP2B, DCTN1, ERBB4 and 21 more

  Turnaround time: 43 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

• Antenatal Bartter syndrome type I (SLC12A1 gene, NGS)

  Code 10363 · Next-generation sequencing (NGS)

  Genes: SLC12A1

  Turnaround time: 33 working days

• Antithrombin III deficiency (SERPINC1 gene, sequencing)

  Code 3325 · Sanger sequencing

  Genes: SERPINC1

  Turnaround time: 33 working days

• Antley-Bixler syndrome (FGFR2 gene, NGS)

  Code 10282 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations, FGFR2 gene sequencing

  Code 10284 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• APOA5 gene sequencing (Apo A-V)

  Code 3134 · Sequencing

  Genes: APOA5

  Turnaround time: 33 working days

• Apo A full gene sequencing

  Code 3127 · PCR / Sequencing

  Genes: APOA/LPA

  Turnaround time: 33 working days

• ApoB gene mutation testing (3 mutations)

  Code 3128 · Sanger sequencing

  Genes: APOB

  Turnaround time: 28 working days

• APOC2 gene sequencing (Apo C-II)

  Code 3136 · Sequencing

  Genes: APOC2

  Turnaround time: 33 working days

• APOC3 gene sequencing (Apo C-III)

  Code 3137 · Sequencing

  Genes: APOC3

  Turnaround time: 43 working days

• Arthrogryposis and congenital contractures (20-gene panel, NGS)

  Code 3262 · Next-generation sequencing (NGS)

  Genes: ADCY6, CHST14, CNTNAP1, ECEL1, ERBB3, FBN2, FKBP10, GLE1 and 12 more

  Turnaround time: 33 working days

• Asphyxiating thoracic dystrophy of the newborn (Jeune syndrome) (DYNC2H1 gene, NGS)

  Code 10797 · Next-generation sequencing (NGS)

  Genes: DYNC2H1

  Turnaround time: 33 working days

• Asphyxiating thoracic dystrophy of the newborn (Jeune syndrome) (IFT80 gene, NGS)

  Code 10795 · Next-generation sequencing (NGS)

  Genes: IFT80

  Turnaround time: 33 working days

• Asphyxiating thoracic dystrophy of the newborn (Jeune syndrome) (TTC21B gene, NGS)

  Code 10796 · Next-generation sequencing (NGS)

  Genes: TTC21B

  Turnaround time: 33 working days

• Asphyxiating thoracic dystrophy of the newborn (Jeune syndrome) (WDR19 gene, NGS)

  Code 10798 · Next-generation sequencing (NGS)

  Genes: WDR19

  Turnaround time: 33 working days

• ATR-X syndrome (ATRX gene, NGS)

  Code 10330 · Next-generation sequencing (NGS)

  Genes: ATRX

  Turnaround time: 33 working days