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

221 tests · Page 1 of 8

• Aarskog syndrome (FGD1 gene, NGS)

  Code 10095 · Next-generation sequencing (NGS)

  Genes: FGD1

  Turnaround time: 33 working days

• Aceruloplasminemia (CP gene, NGS)

  Code 10097 · Next-generation sequencing (NGS)

  Genes: CP

  Turnaround time: 33 working days

• Achromatopsia (38-gene panel, NGS)

  Code 10139 · Next-generation sequencing (NGS)

  Genes: ABCA4, ADAM9, AIPL1, ATF6, C21orf2, C8orf37, CABP4, CACNA1F and 30 more

  Turnaround time: 33 working days

• Achromatopsia, c.1148delC mutation, CNGB3 gene

  Code 10138 · Next-generation sequencing (NGS)

  Genes: CNGB3

  Turnaround time: 33 working days

• Achromatopsia (CNGA3 gene, NGS)

  Code 10141 · Next-generation sequencing (NGS)

  Genes: CNGA3

  Turnaround time: 33 working days

• Achromatopsia (CNGB3 gene, NGS)

  Code 10140 · Next-generation sequencing (NGS)

  Genes: CNGB3

  Turnaround time: 33 working days

• Achromatopsia (GNAT2 gene, NGS)

  Code 10142 · Next-generation sequencing (NGS)

  Genes: GNAT2

  Turnaround time: 33 working days

• Achromatopsia (PDE6C gene, NGS)

  Code 10143 · Next-generation sequencing (NGS)

  Genes: PDE6C

  Turnaround time: 33 working days

• Achromatopsia (PDE6H gene, NGS)

  Code 10144 · Next-generation sequencing (NGS)

  Genes: PDE6H

  Turnaround time: 33 working days

• Alagille syndrome type 1 (JAG1 gene, NGS)

  Code 10190 · Next-generation sequencing (NGS)

  Genes: JAG1

  Turnaround time: 33 working days

• Alagille syndrome type 2 (NOTCH2 gene, NGS)

  Code 3345 · Next-generation sequencing (NGS)

  Genes: NOTCH2

  Turnaround time: 33 working days

• Alagille syndrome types 1 and 2 (2-gene panel, NGS)

  Code 10192 · Next-generation sequencing (NGS)

  Genes: JAG1, NOTCH2

  Turnaround time: 33 working days

• Albinism, isolated and syndromic forms (18-gene panel, NGS)

  Code 10194 · Next-generation sequencing (NGS)

  Genes: GPR143, OCA2, SLC45A2, TYRP1, MC1R, SLC24A5, LYST, HPS1 and 10 more

  Turnaround time: 33 working days

• Alström syndrome (ALMS1 gene, NGS)

  Code 10215 · Next-generation sequencing (NGS)

  Genes: ALMS1

  Turnaround time: 33 working days

• Anophthalmia, microphthalmia and anterior segment dysgenesis (25-gene panel, NGS)

  Code 10083 · Next-generation sequencing (NGS)

  Genes: BCOR, BMP4, COL4A1, CYP1B1, FOXC1, FOXE3, FRAS1, FREM1 and 17 more

  Turnaround time: 33 working days

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

  Code 10278 · Next-generation sequencing (NGS)

  Genes: MFRP

  Turnaround time: 33 working days

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

  Code 10279 · Next-generation sequencing (NGS)

  Genes: PRSS56

  Turnaround time: 33 working days

• Apolipoprotein E - genotype

  Code 827 · PCR

  Genes: APOE

  Turnaround time: 9 working days

• ATR-X syndrome (ATRX gene, NGS)

  Code 10330 · Next-generation sequencing (NGS)

  Genes: ATRX

  Turnaround time: 33 working days

• Autoimmune polyendocrine syndrome type 1 (AIRE gene, NGS)

  Code 11361 · Next-generation sequencing (NGS)

  Genes: AIRE

  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 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

• 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