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 4 of 26

• 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

• Bartter syndrome type 3 (CLCNKB gene, NGS)

  Code 10365 · Next-generation sequencing (NGS)

  Genes: CLCNKB

  Turnaround time: 33 working days

• Bartter syndrome type 4B (CLCNKA gene, NGS)

  Code 10367 · Next-generation sequencing (NGS)

  Genes: CLCNKA

  Turnaround time: 33 working days

• Beals syndrome (congenital contractural arachnodactyly) (FBN2 gene, NGS)

  Code 10369 · Next-generation sequencing (NGS)

  Genes: FBN2

  Turnaround time: 33 working days

• Benign familial chorea (NKX2-1 gene, NGS)

  Code 10512 · Next-generation sequencing (NGS)

  Genes: NKX2-1

  Turnaround time: 33 working days

• Benign familial hypobetalipoproteinemia (APOB gene, NGS)

  Code 11008 · Next-generation sequencing (NGS)

  Genes: APOB

  Turnaround time: 33 working days

• Benign familial hypobetalipoproteinemia (MTTP gene, NGS)

  Code 11007 · Next-generation sequencing (NGS)

  Genes: MTTP

  Turnaround time: 33 working days

• Benign familial neonatal epilepsy (KCNQ2 gene, NGS)

  Code 10888 · Next-generation sequencing (NGS)

  Genes: KCNQ2

  Turnaround time: 33 working days

• Benign familial neonatal epilepsy (KCNQ3 gene, NGS)

  Code 10887 · Next-generation sequencing (NGS)

  Genes: KCNQ3

  Turnaround time: 33 working days

• Benign familial neonatal-infantile seizures (KCNQ2 gene, NGS)

  Code 10508 · Next-generation sequencing (NGS)

  Genes: KCNQ2

  Turnaround time: 33 working days

• Benign familial neonatal-infantile seizures (KCNQ3 gene, NGS)

  Code 10510 · Next-generation sequencing (NGS)

  Genes: KCNQ3

  Turnaround time: 33 working days

• Benign familial neonatal-infantile seizures (PRRT2 gene, NGS)

  Code 10509 · Next-generation sequencing (NGS)

  Genes: PRRT2

  Turnaround time: 33 working days

• Benign familial neonatal-infantile seizures (SCN2A gene, NGS)

  Code 10507 · Next-generation sequencing (NGS)

  Genes: SCN2A

  Turnaround time: 33 working days

• Bethlem myopathy type 1 (3-gene panel, NGS)

  Code 11138 · Next-generation sequencing (NGS)

  Genes: COL6A1, COL6A2, COL6A3

  Turnaround time: 33 working days

• Bethlem myopathy type 1 (COL6A1 gene, NGS)

  Code 11135 · Next-generation sequencing (NGS)

  Genes: COL6A1

  Turnaround time: 33 working days

• Bethlem myopathy type 1 (COL6A2 gene, NGS)

  Code 11136 · Next-generation sequencing (NGS)

  Genes: COL6A2

  Turnaround time: 33 working days

• Bethlem myopathy type 1 (COL6A3 gene, NGS)

  Code 11137 · Next-generation sequencing (NGS)

  Genes: COL6A3

  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