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

911 tests · Page 9 of 31

• 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

• Cortical dysplasia [CDCBM1] (TUBB3 gene, sequencing)

  Code 3468 · Sequencing

  Genes: TUBB3

  Turnaround time: 33 working days

• Costello syndrome (HRAS gene, NGS)

  Code 10519 · Next-generation sequencing (NGS)

  Genes: HRAS

  Turnaround time: 33 working days

• Craniofrontonasal dysplasia (EFNB1 gene, NGS)

  Code 10667 · Next-generation sequencing (NGS)

  Genes: EFNB1

  Turnaround time: 33 working days

• Craniosynostosis (22-gene panel, NGS)

  Code 10522 · Next-generation sequencing (NGS)

  Genes: ALX4, COLEC11, CYP26B1, EFNB1, ERF, FBN1, FGFR1, FGFR2 and 14 more

  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

• Craniosynostosis type 1 (TWIST1 gene, NGS)

  Code 10523 · Next-generation sequencing (NGS)

  Genes: TWIST1

  Turnaround time: 33 working days

• Craniosynostosis type 2 (MSX2 gene, NGS)

  Code 10524 · Next-generation sequencing (NGS)

  Genes: MSX2

  Turnaround time: 33 working days

• Craniosynostosis type 3 (TCF12 gene, NGS)

  Code 10525 · Next-generation sequencing (NGS)

  Genes: TCF12

  Turnaround time: 33 working days

• Creatine deficiency (GAMT gene, NGS)

  Code 10580 · Next-generation sequencing (NGS)

  Genes: GAMT

  Turnaround time: 33 working days

• Creatine transporter deficiency (SLC6A8 gene, NGS)

  Code 10600 · Next-generation sequencing (NGS)

  Genes: SLC6A8

  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

• Darier disease (ATP2A2 gene, NGS)

  Code 10530 · Next-generation sequencing (NGS)

  Genes: ATP2A2

  Turnaround time: 33 working days

• D-bifunctional protein deficiency (HSD17B4 gene, NGS)

  Code 10573 · Next-generation sequencing (NGS)

  Genes: HSD17B4

  Turnaround time: 33 working days

• Deficiency of the interleukin-1 receptor antagonist (IL1RN gene, NGS)

  Code 10554 · Next-generation sequencing (NGS)

  Genes: IL1RN

  Turnaround time: 33 working days

• Dejerine-Sottas syndrome (MPZ gene, NGS)

  Code 10609 · Next-generation sequencing (NGS)

  Genes: MPZ

  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

• Dent disease (2-gene panel, NGS)

  Code 10619 · Next-generation sequencing (NGS)

  Genes: CLCN5, OCRL

  Turnaround time: 33 working days

• Dent disease (CLCN5 gene, NGS)

  Code 10617 · Next-generation sequencing (NGS)

  Genes: CLCN5

  Turnaround time: 33 working days

• Dent disease (OCRL gene, NGS)

  Code 10618 · Next-generation sequencing (NGS)

  Genes: OCRL

  Turnaround time: 33 working days