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

617 tests · Page 7 of 21

• Cohen syndrome (VPS13B gene, NGS)

  Code 10492 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• Complement component C3 deficiency (C3 gene, NGS)

  Code 3255 · Next-generation sequencing (NGS)

  Genes: C3

  Turnaround time: 33 working days

• Complete cystic fibrosis (CFTR) gene testing

  Code 3074 · Sequencing

  Genes: CFTR

  Turnaround time: 48 working days

• Congenital central core myopathies (5-gene panel, NGS)

  Code 11130 · Next-generation sequencing (NGS)

  Genes: RYR1, SEPN1, MYH7, ACTA1, TNNT1, CFL2

  Turnaround time: 33 working days

• Congenital central hypoventilation syndrome (18-gene panel, NGS)

  Code 10031 · Next-generation sequencing (NGS)

  Genes: ASCL1, BDNF, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ and 10 more

  Turnaround time: 33 working days

• Congenital disorder of glycosylation type 1A (G6PC gene, sequencing)

  Code 3313 · Sanger sequencing

  Genes: G6PC

  Turnaround time: 33 working days

• Congenital hypothyroidism (TRHR gene, sequencing)

  Code 3280 · Next-generation sequencing (NGS)

  Genes: TRHR

  Turnaround time: 33 working days

• Congenital hypothyroidism (TSHB gene, sequencing)

  Code 3279 · Next-generation sequencing (NGS)

  Genes: TSHB

  Turnaround time: 33 working days

• Congenital isolated growth hormone deficiency type IA (GH1 gene, NGS)

  Code 10558 · Next-generation sequencing (NGS)

  Genes: GH1

  Turnaround time: 33 working days

• Congenital nonautoimmune hyperthyroidism (TSHR gene, sequencing)

  Code 3270 · Sanger sequencing

  Genes: TSHR

  Turnaround time: 33 working days

• Congenital sucrase-isomaltase deficiency (SI gene, NGS)

  Code 10585 · Next-generation sequencing (NGS)

  Genes: SI

  Turnaround time: 33 working days

• Congenital sucrase-isomaltase deficiency (SI gene, NGS)

  Code 3327 · Next-generation sequencing (NGS)

  Genes: SI

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (5-gene panel, NGS)

  Code 10514 · Next-generation sequencing (NGS)

  Genes: HDAC8, NIPBL, RAD21, SMC1A, SMC3

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (NIPBL gene, NGS)

  Code 10515 · Next-generation sequencing (NGS)

  Genes: NIPBL

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (SMC1A gene, NGS)

  Code 10516 · Next-generation sequencing (NGS)

  Genes: SMC1A

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (SMC3 gene, NGS)

  Code 10517 · Next-generation sequencing (NGS)

  Genes: SMC3

  Turnaround time: 33 working days

• Costello syndrome (HRAS gene, NGS)

  Code 10519 · Next-generation sequencing (NGS)

  Genes: HRAS

  Turnaround time: 33 working days

• Cowden syndrome (PTEN gene, NGS)

  Code 10520 · Next-generation sequencing (NGS)

  Genes: PTEN

  Turnaround time: 33 working days

• Craniosynostosis (28-gene panel, NGS)

  Code 3306 · Next-generation sequencing (NGS)

  Genes: CYP26B1, EFNB1, ERF, FAM20C, FGFR1, FGFR2, FGFR3, FREM1 and 20 more

  Turnaround time: 33 working days

• Creatine transporter deficiency (SLC6A8 gene, NGS)

  Code 10600 · Next-generation sequencing (NGS)

  Genes: SLC6A8

  Turnaround time: 33 working days

• Crigler-Najjar syndrome (UGT1A1 gene, NGS)

  Code 10526 · Next-generation sequencing (NGS)

  Genes: UGT1A1

  Turnaround time: 33 working days

• Crouzon syndrome (FGFR2 gene, NGS)

  Code 10529 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• C syndrome (CD96 gene, NGS)

  Code 10403 · Next-generation sequencing (NGS)

  Genes: CD96

  Turnaround time: 33 working days

• CUBN gene testing (NGS)

  Code 3342 · Next-generation sequencing (NGS)

  Genes: CUBN

  Turnaround time: 33 working days

• CYP1B1 gene testing (NGS, MLPA)

  Code 3502 · Next-generation sequencing (NGS) + MLPA

  Genes: CYP1B1

  Turnaround time: 33 working days

• Cystic fibrosis (phase I: common variants)

  Code 3022 · PCR

  Genes: CFTR

  Turnaround time: 15 working days

• Dejerine-Sottas syndrome (MPZ gene, NGS)

  Code 10609 · Next-generation sequencing (NGS)

  Genes: MPZ

  Turnaround time: 33 working days

• Dejerine-Sottas syndrome (PMP22 gene, NGS)

  Code 10610 · Next-generation sequencing (NGS)

  Genes: PMP22

  Turnaround time: 33 working days

• Dementias (24-gene panel, NGS)

  Code 3321 · Next-generation sequencing (NGS)

  Genes: APP, APOE, CHCHD10, CHMP2B, CSF1R, DCTN1, FUS, GRN and 16 more

  Turnaround time: 33 working days

• Dentatorubral-pallidoluysian atrophy (ATN1 gene)

  Code 3237 · PCR / Fragment analysis

  Genes: ATN1

  Turnaround time: 33 working days