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

125 tests · Page 1 of 5

• 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

• Alport syndrome (3-gene panel, NGS)

  Code 10211 · Next-generation sequencing (NGS)

  Genes: COL4A3, COL4A4, COL4A5

  Turnaround time: 33 working days

• Alport syndrome (COL4A3 gene, NGS)

  Code 10212 · Next-generation sequencing (NGS)

  Genes: COL4A3

  Turnaround time: 33 working days

• Alport syndrome (COL4A4 gene, NGS)

  Code 10213 · Next-generation sequencing (NGS)

  Genes: COL4A4

  Turnaround time: 33 working days

• Alport syndrome (X-linked) (COL4A5 gene, NGS)

  Code 10214 · Next-generation sequencing (NGS)

  Genes: COL4A5

  Turnaround time: 33 working days

• Alström syndrome (ALMS1 gene, NGS)

  Code 10215 · Next-generation sequencing (NGS)

  Genes: ALMS1

  Turnaround time: 33 working days

• AMN gene testing (sequencing)

  Code 3343 · Sanger sequencing

  Genes: AMN

  Turnaround time: 33 working days

• Antenatal Bartter syndrome type I (SLC12A1 gene, NGS)

  Code 10363 · Next-generation sequencing (NGS)

  Genes: SLC12A1

  Turnaround time: 33 working days

• Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations, FGFR2 gene sequencing

  Code 10284 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• Apolipoprotein E - genotype

  Code 827 · PCR

  Genes: APOE

  Turnaround time: 9 working days

• Atypical hemolytic uremic syndrome (14-gene panel, NGS)

  Code 10960 · Next-generation sequencing (NGS)

  Genes: CFH, CFI, CD46, CFB, C3, THBD, DGKE, CFHR1 and 6 more

  Turnaround time: 33 working days

• Autoimmune interstitial lung, joint, and kidney disease (COPA gene, NGS)

  Code 10333 · Next-generation sequencing (NGS)

  Genes: COPA

  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 medullary cystic kidney disease (MUC1 gene, NGS)

  Code 10855 · Next-generation sequencing (NGS)

  Genes: MUC1

  Turnaround time: 33 working days

• Autosomal dominant medullary cystic kidney disease (UMOD gene, NGS)

  Code 10856 · Next-generation sequencing (NGS)

  Genes: UMOD

  Turnaround time: 33 working days

• Autosomal dominant spastic paraplegia (17-gene panel, NGS)

  Code 3213 · Next-generation sequencing (NGS)

  Genes: ALDH18A1, ATL1, ATP2B4, BICD2, BSCL2, CPT1C, HSPD1, KIF5A and 9 more

  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 polycystic kidney disease (PKHD1 gene, NGS)

  Code 11304 · Next-generation sequencing (NGS)

  Genes: PKHD1

  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 (4-gene panel, NGS)

  Code 10364 · Next-generation sequencing (NGS)

  Genes: BSND, KCNJ1, SLC12A1, CLCNKB

  Turnaround time: 33 working days

• Bartter syndrome type 2 (KCNJ1 gene, NGS)

  Code 10368 · Next-generation sequencing (NGS)

  Genes: KCNJ1

  Turnaround time: 33 working days

• Bartter syndrome type 4A (BSND gene, NGS)

  Code 10366 · Next-generation sequencing (NGS)

  Genes: BSND

  Turnaround time: 33 working days

• Beckwith-Wiedemann syndrome (CDKN1C gene, NGS)

  Code 10370 · Next-generation sequencing (NGS)

  Genes: CDKN1C

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome, c.1285delC and c.1285dupC mutations, FLCN gene

  Code 10376 · Next-generation sequencing (NGS)

  Genes: FLCN

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (c.1285 mutation)

  Code 3143 · Sequencing

  Genes: FLCN

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (familial variant)

  Code 3144 · Sequencing

  Genes: FLCN

  Turnaround time: 24 working days

• Birt-Hogg-Dubé syndrome (FLCN gene, 14 exons, sequencing)

  Code 3299 · Sanger sequencing

  Genes: FLCN, 14 exões

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (FLCN gene, NGS)

  Code 10377 · Next-generation sequencing (NGS)

  Genes: FLCN

  Turnaround time: 33 working days