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 1 of 26

• 17q21.31 microdeletion syndrome (MAPT gene, NGS)

  Code 11126 · Next-generation sequencing (NGS)

  Genes: MAPT

  Turnaround time: 33 working days

• 2-Hydroxyglutaric aciduria (D2HGDH gene, NGS)

  Code 10126 · Next-generation sequencing (NGS)

  Genes: D2HGDH

  Turnaround time: 33 working days

• 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

• Acute intermittent porphyria (HMBS gene, NGS)

  Code 11299 · Next-generation sequencing (NGS)

  Genes: HMBS

  Turnaround time: 33 working days

• Acyl-CoA dehydrogenase enzyme deficiency (ACADM gene, NGS)

  Code 10549 · Next-generation sequencing (NGS)

  Genes: ACADM

  Turnaround time: 33 working days

• Adams-Oliver syndrome (8-gene panel, NGS)

  Code 10160 · Next-generation sequencing (NGS)

  Genes: ARHGAP31, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, RBPJ, UBR1

  Turnaround time: 33 working days

• Adams-Oliver syndrome (ARHGAP31 gene, NGS)

  Code 10155 · Next-generation sequencing (NGS)

  Genes: ARHGAP31

  Turnaround time: 33 working days

• Adams-Oliver syndrome (DOCK6 gene, NGS)

  Code 10156 · Next-generation sequencing (NGS)

  Genes: DOCK6

  Turnaround time: 33 working days

• Adams-Oliver syndrome (RBPJ gene, NGS)

  Code 10157 · Next-generation sequencing (NGS)

  Genes: RBPJ

  Turnaround time: 33 working days

• Adrenoleukodystrophy (ABCD1 gene, NGS)

  Code 10167 · Next-generation sequencing (NGS)

  Genes: ABCD1

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (7-gene panel, NGS)

  Code 10188 · Next-generation sequencing (NGS)

  Genes: ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (RNASEH2A gene, NGS)

  Code 10201 · Next-generation sequencing (NGS)

  Genes: RNASEH2A

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (RNASEH2B gene, NGS)

  Code 10200 · Next-generation sequencing (NGS)

  Genes: RNASEH2B

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (RNASEH2C gene, NGS)

  Code 10202 · Next-generation sequencing (NGS)

  Genes: RNASEH2C

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (SAMHD1 gene, NGS)

  Code 10203 · Next-generation sequencing (NGS)

  Genes: SAMHD1

  Turnaround time: 33 working days

• Aicardi-Goutières syndrome (TREX1 gene, NGS)

  Code 10199 · Next-generation sequencing (NGS)

  Genes: TREX1

  Turnaround time: 33 working days

• Alagille syndrome type 2 (NOTCH2 gene, NGS)

  Code 10191 · Next-generation sequencing (NGS)

  Genes: NOTCH2

  Turnaround time: 33 working days

• Alexander disease (GFAP gene, NGS)

  Code 10204 · Next-generation sequencing (NGS)

  Genes: GFAP

  Turnaround time: 33 working days

• Allan-Herndon-Dudley syndrome (SLC16A2 gene, NGS)

  Code 10220 · Next-generation sequencing (NGS)

  Genes: SLC16A2

  Turnaround time: 33 working days

• Allgrove syndrome (AAAS gene, NGS)

  Code 10208 · Next-generation sequencing (NGS)

  Genes: AAAS

  Turnaround time: 33 working days

• Alpha-mannosidosis (MAN2B1 gene, NGS)

  Code 10206 · Next-generation sequencing (NGS)

  Genes: MAN2B1

  Turnaround time: 33 working days

• ALS/Frontotemporal dementia and syndromes included in the differential diagnosis (48-gene panel, NGS)

  Code 10016 · Next-generation sequencing (NGS)

  Genes: ALS2, ANG, ANXA11, ATL1, ATXN2, BSCL2, CCNF, CHCHD10 and 40 more

  Turnaround time: 33 working days

• Alternating hemiplegia of childhood (5-gene panel, NGS)

  Code 10030 · Next-generation sequencing (NGS)

  Genes: ATP1A2, ATP1A3, CACNA1A, SLC1A3, SLC2A1

  Turnaround time: 33 working days

• Alternating hemiplegia of childhood type 1 (ATP1A2 gene, NGS)

  Code 10956 · Next-generation sequencing (NGS)

  Genes: ATP1A2

  Turnaround time: 33 working days

• Alternating hemiplegia of childhood type 2 (ATP1A3 gene, NGS)

  Code 10957 · Next-generation sequencing (NGS)

  Genes: ATP1A3

  Turnaround time: 33 working days

• Alzheimer disease (9-gene panel, NGS)

  Code 3265 · Next-generation sequencing (NGS)

  Genes: A2M, APOE, APP, GRN, MAPT, PRNP, PSEN1, PSEN2 and 1 more

  Turnaround time: 33 working days

• Alzheimer disease and dementias (22-gene panel, NGS)

  Code 10008 · Next-generation sequencing (NGS)

  Genes: APP, ATP13A2, CHCHD10, CHMP2B, CSF1R, DCTN1, FUS, GRN and 14 more

  Turnaround time: 33 working days

• Alzheimer disease (APOE gene, NGS)

  Code 10219 · Next-generation sequencing (NGS)

  Genes: APOE

  Turnaround time: 33 working days

• Alzheimer disease (APP gene, NGS)

  Code 10216 · Next-generation sequencing (NGS)

  Genes: APP

  Turnaround time: 33 working days