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 11 of 26

• Familial hemiplegic migraine (7-gene panel, NGS)

  Code 10032 · Next-generation sequencing (NGS)

  Genes: ATP1A2, CACNA1A, CACNB4, KCNA1, PRRT2, SCN1A, SLC1A3

  Turnaround time: 33 working days

• Familial hypercholesterolemia (2-gene panel, NGS)

  Code 10988 · Next-generation sequencing (NGS)

  Genes: APOB, LDLR

  Turnaround time: 33 working days

• Familial hypokalemic periodic paralysis (2-gene panel, NGS)

  Code 11247 · Next-generation sequencing (NGS)

  Genes: CACNA1S, SCN4A

  Turnaround time: 33 working days

• Familial hypokalemic periodic paralysis (CACNA1S gene, NGS)

  Code 11248 · Next-generation sequencing (NGS)

  Genes: CACNA1S

  Turnaround time: 33 working days

• Familial pheochromocytoma (15-gene panel, NGS)

  Code 10050 · Next-generation sequencing (NGS)

  Genes: CDC73, CDKN1B, FH, KIF1B, MAX, NF1, PRKAR1A, RET and 7 more

  Turnaround time: 33 working days

• Familial spastic paraplegia 10 (KIF5A gene, NGS)

  Code 11258 · Next-generation sequencing (NGS)

  Genes: KIF5A

  Turnaround time: 33 working days

• Familial spastic paraplegia 11 (SPG11 gene, NGS)

  Code 11259 · Next-generation sequencing (NGS)

  Genes: SPG11

  Turnaround time: 33 working days

• Familial spastic paraplegia 12 (RTN2 gene, NGS)

  Code 11260 · Next-generation sequencing (NGS)

  Genes: RTN2

  Turnaround time: 33 working days

• Familial spastic paraplegia 13 (HSPD1 gene, NGS)

  Code 11261 · Next-generation sequencing (NGS)

  Genes: HSPD1

  Turnaround time: 33 working days

• Familial spastic paraplegia 15 (ZFYVE26 gene, NGS)

  Code 11262 · Next-generation sequencing (NGS)

  Genes: ZFYVE26

  Turnaround time: 33 working days

• Familial spastic paraplegia 2 (SPG2) (PLP1 gene, NGS)

  Code 11251 · Next-generation sequencing (NGS)

  Genes: PLP1

  Turnaround time: 33 working days

• Familial spastic paraplegia 31 (REEP1 gene, NGS)

  Code 11263 · Next-generation sequencing (NGS)

  Genes: REEP1

  Turnaround time: 33 working days

• Familial spastic paraplegia 35 (FA2H gene, NGS)

  Code 11264 · Next-generation sequencing (NGS)

  Genes: FA2H

  Turnaround time: 33 working days

• Familial spastic paraplegia 39 (PNPLA6 gene, NGS)

  Code 11265 · Next-generation sequencing (NGS)

  Genes: PNPLA6

  Turnaround time: 33 working days

• Familial spastic paraplegia 3A (ATL1 gene, NGS)

  Code 11252 · Next-generation sequencing (NGS)

  Genes: ATL1

  Turnaround time: 33 working days

• Familial spastic paraplegia 4 (SPAST gene, NGS)

  Code 11253 · Next-generation sequencing (NGS)

  Genes: SPAST

  Turnaround time: 33 working days

• Familial spastic paraplegia 5A (CYP7B1 gene, NGS)

  Code 11254 · Next-generation sequencing (NGS)

  Genes: CYP7B1

  Turnaround time: 33 working days

• Familial spastic paraplegia 6 (NIPA1 gene, NGS)

  Code 11255 · Next-generation sequencing (NGS)

  Genes: NIPA1

  Turnaround time: 33 working days

• Familial spastic paraplegia 73 (CPT1C gene, NGS)

  Code 11266 · Next-generation sequencing (NGS)

  Genes: CPT1C

  Turnaround time: 33 working days

• Familial spastic paraplegia 7 (SPG7 gene, NGS)

  Code 11256 · Next-generation sequencing (NGS)

  Genes: SPG7

  Turnaround time: 33 working days

• Familial spastic paraplegia 8 (KIAA0196 gene, NGS)

  Code 11257 · Next-generation sequencing (NGS)

  Genes: KIAA0196

  Turnaround time: 33 working days

• Familial thoracic aortic aneurysm (TGFBR1 gene, NGS)

  Code 10268 · Next-generation sequencing (NGS)

  Genes: TGFBR1

  Turnaround time: 33 working days

• Familial thoracic aortic aneurysm (TGFBR2 gene, NGS)

  Code 10267 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Familial thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome (ADAMTS13 gene, NGS)

  Code 11325 · Next-generation sequencing (NGS)

  Genes: ADAMTS13

  Turnaround time: 33 working days

• Familial variant testing, TSC1 gene

  Code 3179 · Sequencing

  Genes: TSC1

  Turnaround time: 24 working days

• Familial vascular leukoencephalopathy (COL4A1 gene, NGS)

  Code 11087 · Next-generation sequencing (NGS)

  Genes: COL4A1

  Turnaround time: 33 working days

• Fanconi anemia (FANCD2 gene, NGS)

  Code 10241 · Next-generation sequencing (NGS)

  Genes: FANCD2

  Turnaround time: 33 working days

• Feingold syndrome (MYCN gene, NGS)

  Code 10920 · Next-generation sequencing (NGS)

  Genes: MYCN

  Turnaround time: 33 working days

• Fiber-type disproportion myopathy and Shprintzen-Goldberg syndrome (32-gene panel, NGS)

  Code 10013 · Next-generation sequencing (NGS)

  Genes: ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, ANO5, ATP2A1 and 24 more

  Turnaround time: 33 working days

• Fibrodysplasia ossificans progressiva (ACVR1 gene, NGS)

  Code 10922 · Next-generation sequencing (NGS)

  Genes: ACVR1

  Turnaround time: 33 working days