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 8 of 26

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 2 (BSCL2 gene, NGS)

  Code 11091 · Next-generation sequencing (NGS)

  Genes: BSCL2

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 3 (CAV1 gene, NGS)

  Code 11092 · Next-generation sequencing (NGS)

  Genes: CAV1

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 4 (PTRF gene, NGS)

  Code 11093 · Next-generation sequencing (NGS)

  Genes: PTRF

  Turnaround time: 33 working days

• Congenital hearing loss (GJB2 and GJB6 genes, sequencing)

  Code 3351 · Sanger sequencing

  Genes: GJB2, GJB6

  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 muscular dystrophy type 1A (LAMA2 gene, NGS)

  Code 3405 · Sequencing

  Genes: LAMA2

  Turnaround time: 33 working days

• Congenital muscular dystrophy with merosin deficiency (LAMA2 gene, NGS)

  Code 10759 · Next-generation sequencing (NGS)

  Genes: LAMA2

  Turnaround time: 33 working days

• Congenital myasthenic syndrome (30-gene panel, NGS)

  Code 10018 · Next-generation sequencing (NGS)

  Genes: AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE and 22 more

  Turnaround time: 33 working days

• Congenital myasthenic syndrome (CHRNE gene, NGS)

  Code 11123 · Next-generation sequencing (NGS)

  Genes: CHRNE

  Turnaround time: 33 working days

• Congenital myasthenic syndrome (RAPSN gene, NGS)

  Code 11122 · Next-generation sequencing (NGS)

  Genes: RAPSN

  Turnaround time: 33 working days

• Congenital myopathies (26-gene panel, NGS)

  Code 10034 · Next-generation sequencing (NGS)

  Genes: ACTA1, BIN1, CCDC78, CFL2, DNM2, GLDN, HACD1, KBTBD13 and 18 more

  Turnaround time: 33 working days

• Congenital myotubular myopathy (MTM1 gene, NGS)

  Code 11129 · Next-generation sequencing (NGS)

  Genes: MTM1

  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

• 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

• 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

• Creutzfeldt-Jakob disease (PRNP gene, sequencing)

  Code 3374 · Sequencing

  Genes: PRNP

  Turnaround time: 33 working days

• Crigler-Najjar syndrome (UGT1A1 gene, NGS)

  Code 10526 · Next-generation sequencing (NGS)

  Genes: UGT1A1

  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

• Cystic fibrosis (phase I: common variants)

  Code 3022 · PCR

  Genes: CFTR

  Turnaround time: 15 working days

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

  Code 10573 · Next-generation sequencing (NGS)

  Genes: HSD17B4

  Turnaround time: 33 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