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

488 tests · Page 2 of 17

• Anophthalmia - microphthalmia, isolated (PRSS56 gene, NGS)

  Code 10279 · Next-generation sequencing (NGS)

  Genes: PRSS56

  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

• Antley-Bixler type 1, ambiguous genitalia, disordered steroidogenesis (POR gene, NGS)

  Code 10283 · Next-generation sequencing (NGS)

  Genes: POR

  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

• Arthrogryposis (70-gene panel, NGS)

  Code 10168 · Next-generation sequencing (NGS)

  Genes: ACTA1, ADGRG6, AGRN, BIN1, CASK, CFL2, CHAT, CHRNA1 and 62 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

• Atrial septal defects (GATA4 gene, NGS)

  Code 10535 · Next-generation sequencing (NGS)

  Genes: GATA4

  Turnaround time: 33 working days

• Atrioventricular canal defect (GATA4 gene, NGS)

  Code 10280 · Next-generation sequencing (NGS)

  Genes: GATA4

  Turnaround time: 33 working days

• ATR-X syndrome (ATRX gene, NGS)

  Code 10330 · Next-generation sequencing (NGS)

  Genes: ATRX

  Turnaround time: 33 working days

• AURKC gene testing (sequencing)

  Code 3355 · Sanger sequencing

  Genes: AURKC

  Turnaround time: 33 working days

• Autosomal dominant spondylocostal dysostosis (TBX6 gene, NGS)

  Code 10662 · Next-generation sequencing (NGS)

  Genes: TBX6

  Turnaround time: 33 working days

• Axenfeld-Rieger syndrome type 1 (PITX2 gene, NGS)

  Code 10344 · Next-generation sequencing (NGS)

  Genes: PITX2

  Turnaround time: 33 working days

• Axenfeld-Rieger syndrome type 3 (FOXC1 gene, NGS)

  Code 10346 · Next-generation sequencing (NGS)

  Genes: FOXC1

  Turnaround time: 33 working days

• Bardet-Biedl syndrome (23-gene panel, NGS)

  Code 10076 · Next-generation sequencing (NGS)

  Genes: ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5 and 15 more

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 10 (BBS10 gene, NGS)

  Code 10358 · Next-generation sequencing (NGS)

  Genes: BBS10

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 11 (TRIM32 gene, NGS)

  Code 10359 · Next-generation sequencing (NGS)

  Genes: TRIM32

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 12 (BBS12 gene, NGS)

  Code 10360 · Next-generation sequencing (NGS)

  Genes: BBS12

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 13 (MKS1 gene, NGS)

  Code 10361 · Next-generation sequencing (NGS)

  Genes: MKS1

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 1 (BBS1 gene, NGS)

  Code 10350 · Next-generation sequencing (NGS)

  Genes: BBS1

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 1, p.Met390Arg mutation, BBS1 gene

  Code 10349 · Next-generation sequencing (NGS)

  Genes: BBS1

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 2 (BBS2 gene, NGS)

  Code 10351 · Next-generation sequencing (NGS)

  Genes: BBS2

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 3 (ARL6 gene, NGS)

  Code 10352 · Next-generation sequencing (NGS)

  Genes: ARL6

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 4 (BBS4 gene, NGS)

  Code 10353 · Next-generation sequencing (NGS)

  Genes: BBS4

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 5 (BBS5 gene, NGS)

  Code 10354 · Next-generation sequencing (NGS)

  Genes: BBS5

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 7 (BBS7 gene, NGS)

  Code 10355 · Next-generation sequencing (NGS)

  Genes: BBS7

  Turnaround time: 33 working days

• Bardet-Biedl syndrome type 8 (TTC8 gene, NGS)

  Code 10356 · Next-generation sequencing (NGS)

  Genes: TTC8

  Turnaround time: 33 working days