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

414 tests · Page 3 of 14

• Butyrylcholinesterase deficiency (BCHE gene, NGS)

  Code 10567 · Next-generation sequencing (NGS)

  Genes: BCHE

  Turnaround time: 33 working days

• Camurati-Engelmann syndrome (TGFB1 gene, NGS)

  Code 10416 · Next-generation sequencing (NGS)

  Genes: TGFB1

  Turnaround time: 33 working days

• Carnitine palmitoyltransferase deficiency (2-gene panel, NGS)

  Code 10569 · Next-generation sequencing (NGS)

  Genes: CPT1A, CPT2

  Turnaround time: 33 working days

• Carnitine palmitoyltransferase I deficiency (CPT1A gene, NGS)

  Code 10568 · Next-generation sequencing (NGS)

  Genes: CPT1A

  Turnaround time: 33 working days

• Carnitine palmitoyltransferase II deficiency (CPT2 gene, NGS)

  Code 10570 · Next-generation sequencing (NGS)

  Genes: CPT2

  Turnaround time: 33 working days

• CHILD syndrome (NSDHL gene, NGS)

  Code 10473 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Citrullinemia (2-gene panel, NGS)

  Code 10480 · Next-generation sequencing (NGS)

  Genes: SLC25A13, ASS1

  Turnaround time: 33 working days

• Classic citrullinemia (ASS1 gene, NGS)

  Code 10481 · Next-generation sequencing (NGS)

  Genes: ASS1

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• CLN3 gene deletion testing

  Code 3066 · Molecular biology

  Genes: CLN3

  Turnaround time: 11 working days

• Coenzyme Q10 deficiency (16-gene panel, NGS)

  Code 10171 · Next-generation sequencing (NGS)

  Genes: ANO10, APTX, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A and 8 more

  Turnaround time: 33 working days

• Cohen syndrome, VPS13B gene c.3348_3349delCT mutation

  Code 10491 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• Cohen syndrome (VPS13B gene, NGS)

  Code 10492 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• Combined lipase deficiency (LMF1 gene, NGS)

  Code 10536 · Next-generation sequencing (NGS)

  Genes: LMF1

  Turnaround time: 33 working days

• Congenital adrenal hyperplasia (CYP21A2 gene, NGS)

  Code 11002 · Next-generation sequencing (NGS)

  Genes: CYP21A2

  Turnaround time: 33 working days

• Congenital combined pituitary hormone deficiency (LHX3 gene, NGS)

  Code 10581 · Next-generation sequencing (NGS)

  Genes: LHX3

  Turnaround time: 33 working days

• Congenital combined pituitary hormone deficiency (LHX4 gene, NGS)

  Code 10582 · Next-generation sequencing (NGS)

  Genes: LHX4

  Turnaround time: 33 working days

• Congenital combined pituitary hormone deficiency (POU1F1 gene, NGS)

  Code 10584 · Next-generation sequencing (NGS)

  Genes: POU1F1

  Turnaround time: 33 working days

• Congenital combined pituitary hormone deficiency (PROP1 gene, NGS)

  Code 10583 · Next-generation sequencing (NGS)

  Genes: PROP1

  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 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 hyperinsulinism (18-gene panel, NGS)

  Code 10996 · Next-generation sequencing (NGS)

  Genes: ABCC8, ACAT1, FBP1, GCK, GLUD1, HADH, HMGCL, HMGCS2 and 10 more

  Turnaround time: 33 working days