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 1 of 14

• 11-beta-hydroxylase deficiency (CYP11B1 gene, sequencing) [congenital adrenal hyperplasia]

  Code 3254 · Sanger sequencing

  Genes: CYP11B1

  Turnaround time: 28 working days

• 11-beta-hydroxysteroid dehydrogenase deficiency (HSD11B2 gene, NGS)

  Code 10540 · Next-generation sequencing (NGS)

  Genes: HSD11B2

  Turnaround time: 33 working days

• 21-hydroxylase deficiency (CYP21A2 gene)

  Code 3174 · Sequencing and MLPA

  Genes: CYP21A2

  Turnaround time: 24 working days

• 21-hydroxylase deficiency (CYP21A2 gene, MLPA)

  Code 3354 · MLPA

  Genes: CYP21A2

  Turnaround time: 33 working days

• 2-Hydroxyglutaric aciduria (D2HGDH gene, NGS)

  Code 10126 · Next-generation sequencing (NGS)

  Genes: D2HGDH

  Turnaround time: 33 working days

• Abetalipoproteinemia (MTTP gene, NGS)

  Code 10096 · Next-generation sequencing (NGS)

  Genes: MTTP

  Turnaround time: 33 working days

• Aceruloplasminemia (CP gene, NGS)

  Code 10097 · Next-generation sequencing (NGS)

  Genes: CP

  Turnaround time: 33 working days

• Acquired partial lipodystrophy (Barraquer-Simons syndrome) (LMNB2 gene, NGS)

  Code 11094 · Next-generation sequencing (NGS)

  Genes: LMNB2

  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

• Adrenoleukodystrophy (ABCD1 gene, NGS)

  Code 10167 · Next-generation sequencing (NGS)

  Genes: ABCD1

  Turnaround time: 33 working days

• Aldolase B (ALDOB) gene mutation testing

  Code 3028 · Molecular biology

  Genes: ALDOB

  Turnaround time: 11 working days

• Alkaptonuria (HGD gene, NGS)

  Code 10198 · Next-generation sequencing (NGS)

  Genes: HGD

  Turnaround time: 33 working days

• Allgrove syndrome (AAAS gene, NGS)

  Code 10208 · Next-generation sequencing (NGS)

  Genes: AAAS

  Turnaround time: 33 working days

• Alström syndrome (ALMS1 gene, NGS)

  Code 10215 · Next-generation sequencing (NGS)

  Genes: ALMS1

  Turnaround time: 33 working days

• AMACR deficiency (AMACR gene, NGS)

  Code 10541 · Next-generation sequencing (NGS)

  Genes: AMACR

  Turnaround time: 33 working days

• Ambiguous genitalia (46-gene panel, NGS)

  Code 10069 · Next-generation sequencing (NGS)

  Genes: AMH, AMHR2, AR, ARX, ATRX, BCOR, CDKN1C, CEP41 and 38 more

  Turnaround time: 33 working days

• Antithrombin III deficiency (SERPINC1 gene, sequencing)

  Code 3325 · Sanger sequencing

  Genes: SERPINC1

  Turnaround time: 33 working days

• APOA5 gene sequencing (Apo A-V)

  Code 3134 · Sequencing

  Genes: APOA5

  Turnaround time: 33 working days

• APOC2 gene sequencing (Apo C-II)

  Code 3136 · Sequencing

  Genes: APOC2

  Turnaround time: 33 working days

• APOC3 gene sequencing (Apo C-III)

  Code 3137 · Sequencing

  Genes: APOC3

  Turnaround time: 43 working days

• Apolipoprotein A4 deficiency (APOA4 gene, NGS)

  Code 10542 · Next-generation sequencing (NGS)

  Genes: APOA4

  Turnaround time: 33 working days

• Apolipoprotein C-II deficiency (APOC2 gene, NGS)

  Code 10543 · Next-generation sequencing (NGS)

  Genes: APOC2

  Turnaround time: 33 working days

• Apolipoprotein E - genotype

  Code 827 · PCR

  Genes: APOE

  Turnaround time: 9 working days

• Argininemia (arginase deficiency) (ARG1 gene, NGS)

  Code 10287 · Next-generation sequencing (NGS)

  Genes: ARG1

  Turnaround time: 33 working days

• Aromatase deficiency (CYP19A1 gene, NGS)

  Code 10566 · Next-generation sequencing (NGS)

  Genes: CYP19A1

  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 distal renal tubular acidosis (ATP6V1B1 gene, NGS)

  Code 10123 · Next-generation sequencing (NGS)

  Genes: ATP6V1B1

  Turnaround time: 33 working days

• Autosomal dominant distal renal tubular acidosis (SLC4A1 gene, NGS)

  Code 10124 · Next-generation sequencing (NGS)

  Genes: SLC4A1

  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