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

414 tests · Page 2 of 14

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

  Code 11207 · Next-generation sequencing (NGS)

  Genes: POLG2

  Turnaround time: 33 working days

• Autosomal nephrogenic diabetes insipidus (AQP2 gene, NGS)

  Code 10628 · Next-generation sequencing (NGS)

  Genes: AQP2

  Turnaround time: 33 working days

• Autosomal recessive distal renal tubular acidosis (ATP6V0A4 gene, NGS)

  Code 10125 · Next-generation sequencing (NGS)

  Genes: ATP6V0A4

  Turnaround time: 33 working days

• Autosomal recessive malignant osteopetrosis (TCIRG1 gene, NGS)

  Code 11227 · Next-generation sequencing (NGS)

  Genes: TCIRG1

  Turnaround time: 33 working days

• Autosomal recessive malignant osteopetrosis type 2 (TNFSF11 gene, NGS)

  Code 11228 · Next-generation sequencing (NGS)

  Genes: TNFSF11

  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

• 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

• Beckwith-Wiedemann syndrome (CDKN1C gene, NGS)

  Code 10370 · Next-generation sequencing (NGS)

  Genes: CDKN1C

  Turnaround time: 33 working days

• Benign familial hypobetalipoproteinemia (PCSK9 gene, NGS)

  Code 11006 · Next-generation sequencing (NGS)

  Genes: PCSK9

  Turnaround time: 33 working days

• Bilateral striopallidodentate calcinosis (PDGFB gene, NGS)

  Code 10408 · Next-generation sequencing (NGS)

  Genes: PDGFB

  Turnaround time: 33 working days

• Bilateral striopallidodentate calcinosis (PDGFRB gene, NGS)

  Code 10410 · Next-generation sequencing (NGS)

  Genes: PDGFRB

  Turnaround time: 33 working days

• Bilateral striopallidodentate calcinosis (SLC20A2 gene, NGS)

  Code 10409 · Next-generation sequencing (NGS)

  Genes: SLC20A2

  Turnaround time: 33 working days

• Bilateral striopallidodentate calcinosis (XPR1 gene, NGS)

  Code 10411 · Next-generation sequencing (NGS)

  Genes: XPR1

  Turnaround time: 33 working days

• Biotinidase deficiency (BTD gene, NGS)

  Code 10544 · Next-generation sequencing (NGS)

  Genes: BTD

  Turnaround time: 33 working days

• Blepharophimosis-ptosis-epicanthus inversus (FOXL2 gene, NGS)

  Code 10388 · Next-generation sequencing (NGS)

  Genes: FOXL2

  Turnaround time: 33 working days

• Bloom syndrome (BLM gene, NGS)

  Code 10389 · Next-generation sequencing (NGS)

  Genes: BLM

  Turnaround time: 33 working days

• Brain demyelination due to methionine adenosyltransferase deficiency (MAT1A gene, NGS)

  Code 10625 · Next-generation sequencing (NGS)

  Genes: MAT1A

  Turnaround time: 33 working days