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 4 of 31

• Autosomal dominant nocturnal frontal lobe epilepsy (CRH gene, NGS)

  Code 10877 · Next-generation sequencing (NGS)

  Genes: CRH

  Turnaround time: 33 working days

• Autosomal dominant nonsyndromic intellectual disability 1 (SYNGAP1 gene, NGS)

  Code 10604 · Next-generation sequencing (NGS)

  Genes: SYNGAP1

  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

• Autosomal recessive congenital ichthyosis (ABCA12 gene, NGS)

  Code 11045 · Next-generation sequencing (NGS)

  Genes: ABCA12

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (ALOX12B gene, NGS)

  Code 11040 · Next-generation sequencing (NGS)

  Genes: ALOX12B

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (ALOXE3 gene, NGS)

  Code 11041 · Next-generation sequencing (NGS)

  Genes: ALOXE3

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (CYP4F22 gene, NGS)

  Code 11043 · Next-generation sequencing (NGS)

  Genes: CYP4F22

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (NIPAL4 gene, NGS)

  Code 11042 · Next-generation sequencing (NGS)

  Genes: NIPAL4

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (PNPLA1 gene, NGS)

  Code 11044 · Next-generation sequencing (NGS)

  Genes: PNPLA1

  Turnaround time: 33 working days

• Autosomal recessive congenital ichthyosis (TGM1 gene, NGS)

  Code 11046 · Next-generation sequencing (NGS)

  Genes: TGM1

  Turnaround time: 33 working days

• Autosomal recessive cutis laxa type 1A (FBLN5 gene, NGS)

  Code 10337 · Next-generation sequencing (NGS)

  Genes: FBLN5

  Turnaround time: 33 working days

• Autosomal recessive cutis laxa type 3B (PYCR1 gene, NGS)

  Code 10343 · Next-generation sequencing (NGS)

  Genes: PYCR1

  Turnaround time: 33 working days

• Autosomal recessive retinitis pigmentosa (EYS gene, NGS)

  Code 10092 · Next-generation sequencing (NGS)

  Genes: EYS

  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

• Axenfeld-Rieger syndrome type 4 (PITX2 gene, NGS)

  Code 10345 · Next-generation sequencing (NGS)

  Genes: PITX2

  Turnaround time: 33 working days

• Baraitser-Winter syndrome (ACTG1 gene, NGS)

  Code 10348 · Next-generation sequencing (NGS)

  Genes: ACTG1

  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