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 8 of 31

• 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 chloride diarrhea (SLC26A3 gene, NGS)

  Code 10642 · Next-generation sequencing (NGS)

  Genes: SLC26A3

  Turnaround time: 33 working days

• Congenital diarrhea with malabsorption due to enteroendocrine cell deficiency (NEUROG3 gene, NGS)

  Code 10641 · Next-generation sequencing (NGS)

  Genes: NEUROG3

  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 disorder of glycosylation type 1A (PMM2 gene, NGS)

  Code 10531 · Next-generation sequencing (NGS)

  Genes: PMM2

  Turnaround time: 33 working days

• Congenital disorder of glycosylation type 1B (MPI gene, NGS)

  Code 10532 · Next-generation sequencing (NGS)

  Genes: MPI

  Turnaround time: 33 working days

• Congenital disorder of glycosylation type 1C (ALG6 gene, NGS)

  Code 10533 · Next-generation sequencing (NGS)

  Genes: ALG6

  Turnaround time: 33 working days

• Congenital disorders of glycosylation (53-gene panel, NGS)

  Code 10182 · Next-generation sequencing (NGS)

  Genes: ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8 and 45 more

  Turnaround time: 33 working days

• Congenital dyserythropoietic anemia (3-gene panel, NGS)

  Code 10254 · Next-generation sequencing (NGS)

  Genes: CDAN1, SEC23B, KLF1

  Turnaround time: 33 working days

• Congenital dyserythropoietic anemia type 1 (CDAN1 gene, NGS)

  Code 10255 · Next-generation sequencing (NGS)

  Genes: CDAN1

  Turnaround time: 33 working days

• Congenital dyserythropoietic anemia type 2 (SEC23B gene, NGS)

  Code 10256 · Next-generation sequencing (NGS)

  Genes: SEC23B

  Turnaround time: 33 working days

• Congenital dyserythropoietic anemia type 3 (KLF1 gene, NGS)

  Code 10257 · Next-generation sequencing (NGS)

  Genes: KLF1

  Turnaround time: 33 working days

• Congenital erythroblastopenia (Blackfan-Diamond anemia) and differential diagnosis (18-gene panel, NGS)

  Code 10154 · Next-generation sequencing (NGS)

  Genes: GATA1, RPL11, RPL15, RPL19, RPL26, RPL35A, RPL5, RPS10 and 10 more

  Turnaround time: 33 working days

• Congenital erythropoietic porphyria (UROS gene, NGS)

  Code 11302 · Next-generation sequencing (NGS)

  Genes: UROS

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 1 (AGPAT2 gene, NGS)

  Code 11090 · Next-generation sequencing (NGS)

  Genes: AGPAT2

  Turnaround time: 33 working days

• 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 heart defects (NKX2-5 gene, NGS)

  Code 10534 · Next-generation sequencing (NGS)

  Genes: NKX2-5

  Turnaround time: 33 working days

• Congenital ichthyosis, harlequin fetus type (ABCA12 gene, NGS)

  Code 11048 · Next-generation sequencing (NGS)

  Genes: ABCA12

  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 lactase deficiency, c.4170T>A (p.Tyr1390Ter) mutation, LCT gene

  Code 10538 · Next-generation sequencing (NGS)

  Genes: LCT

  Turnaround time: 33 working days

• Congenital lactase deficiency (LCT gene, NGS)

  Code 10539 · Next-generation sequencing (NGS)

  Genes: LCT

  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 nonautoimmune hyperthyroidism (TSHR gene, sequencing)

  Code 3270 · Sanger sequencing

  Genes: TSHR

  Turnaround time: 33 working days

• Congenital protein C deficiency (PROC gene, NGS)

  Code 10560 · Next-generation sequencing (NGS)

  Genes: PROC

  Turnaround time: 33 working days

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

  Code 10537 · Next-generation sequencing (NGS)

  Genes: SI

  Turnaround time: 33 working days