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

774 tests · Page 3 of 26

• Autism (104-gene panel, NGS)

  Code 3316 · Next-generation sequencing (NGS)

  Genes: ADNP, ADSL, ALDH5A1, AMT, ANKRD11, AP1S2, ARID1B, ARX and 96 more

  Turnaround time: 33 working days

• Autosomal anhidrotic ectodermal dysplasia (2-gene panel, NGS)

  Code 10673 · Next-generation sequencing (NGS)

  Genes: EDARADD, EDAR

  Turnaround time: 33 working days

• Autosomal dominant cerebellar ataxia, hearing loss and narcolepsy (DNMT1 gene, NGS)

  Code 10299 · Next-generation sequencing (NGS)

  Genes: DNMT1

  Turnaround time: 33 working days

• Autosomal dominant cervical dystonia (CIZ1 gene, NGS)

  Code 10732 · Next-generation sequencing (NGS)

  Genes: CIZ1

  Turnaround time: 33 working days

• Autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA gene, NGS)

  Code 10784 · Next-generation sequencing (NGS)

  Genes: LMNA

  Turnaround time: 33 working days

• Autosomal dominant lateral temporal lobe epilepsy (LGI1 gene, NGS)

  Code 10883 · Next-generation sequencing (NGS)

  Genes: LGI1

  Turnaround time: 33 working days

• Autosomal dominant nocturnal frontal lobe epilepsy (4-gene panel, NGS)

  Code 10878 · Next-generation sequencing (NGS)

  Genes: CHRNA4, CHRNB2, CHRNA2, KCNT1

  Turnaround time: 33 working days

• Autosomal dominant nocturnal frontal lobe epilepsy (CHRNA2 gene, NGS)

  Code 10876 · Next-generation sequencing (NGS)

  Genes: CHRNA2

  Turnaround time: 33 working days

• Autosomal dominant nocturnal frontal lobe epilepsy (CHRNA4 gene, NGS)

  Code 10874 · Next-generation sequencing (NGS)

  Genes: CHRNA4

  Turnaround time: 33 working days

• Autosomal dominant nocturnal frontal lobe epilepsy (CHRNB2 gene, NGS)

  Code 10875 · Next-generation sequencing (NGS)

  Genes: CHRNB2

  Turnaround time: 33 working days

• 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 progressive external ophthalmoplegia (C10orf2 gene, NGS)

  Code 11206 · Next-generation sequencing (NGS)

  Genes: C10orf2

  Turnaround time: 33 working days

• Autosomal dominant progressive external ophthalmoplegia (POLG2 gene, NGS)

  Code 11207 · Next-generation sequencing (NGS)

  Genes: POLG2

  Turnaround time: 33 working days

• Autosomal dominant proximal muscular atrophy, lower extremity-predominant, without contractures (DYNC1H1 gene, NGS)

  Code 10325 · Next-generation sequencing (NGS)

  Genes: DYNC1H1

  Turnaround time: 33 working days

• Autosomal dominant spastic paraplegia (17-gene panel, NGS)

  Code 3213 · Next-generation sequencing (NGS)

  Genes: ALDH18A1, ATL1, ATP2B4, BICD2, BSCL2, CPT1C, HSPD1, KIF5A and 9 more

  Turnaround time: 33 working days

• Autosomal recessive ataxia due to coenzyme Q10 deficiency (SCAR9) (ADCK3 gene, NGS)

  Code 10298 · Next-generation sequencing (NGS)

  Genes: ADCK3

  Turnaround time: 33 working days

• Autosomal recessive cerebellar ataxia type 1 (SETX gene, NGS)

  Code 10300 · Next-generation sequencing (NGS)

  Genes: SETX

  Turnaround time: 33 working days

• Autosomal recessive cerebellar ataxia type 8 (SYNE1 gene, NGS)

  Code 10301 · Next-generation sequencing (NGS)

  Genes: SYNE1

  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

• Autosomal recessive spastic paraplegia type 30 (KIF1A gene, NGS)

  Code 11249 · Next-generation sequencing (NGS)

  Genes: KIF1A

  Turnaround time: 33 working days

• Autosomal recessive spastic paraplegia type 48 (AP5Z1 gene, NGS)

  Code 11250 · Next-generation sequencing (NGS)

  Genes: AP5Z1

  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