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 3 of 21

• Atypical hemolytic uremic syndrome (14-gene panel, NGS)

  Code 10960 · Next-generation sequencing (NGS)

  Genes: CFH, CFI, CD46, CFB, C3, THBD, DGKE, CFHR1 and 6 more

  Turnaround time: 33 working days

• AURKC gene testing (sequencing)

  Code 3355 · Sanger sequencing

  Genes: AURKC

  Turnaround time: 33 working days

• 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 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 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

• Bardet-Biedl syndrome type 9 (BBS9 gene, NGS)

  Code 10357 · Next-generation sequencing (NGS)

  Genes: BBS9

  Turnaround time: 33 working days

• Bartsocas-Papas syndrome (RIPK4 gene, NGS)

  Code 10362 · Next-generation sequencing (NGS)

  Genes: RIPK4

  Turnaround time: 33 working days

• Bartter syndrome (4-gene panel, NGS)

  Code 10364 · Next-generation sequencing (NGS)

  Genes: BSND, KCNJ1, SLC12A1, CLCNKB

  Turnaround time: 33 working days

• Bartter syndrome and Gitelman syndrome (gene panel, NGS)

  Code 3504 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Bartter syndrome type 2 (KCNJ1 gene, NGS)

  Code 10368 · Next-generation sequencing (NGS)

  Genes: KCNJ1

  Turnaround time: 33 working days