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 18 of 26

• Limb-girdle muscular dystrophy type 2L (ANO5 gene, NGS)

  Code 10778 · Next-generation sequencing (NGS)

  Genes: ANO5

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2L (anoctamin 5)

  Code 3113 · Sequencing

  Genes: ANO5

  Turnaround time: 43 working days

• Limb-girdle muscular dystrophy type 2M/4C (FKTN gene, NGS)

  Code 10779 · Next-generation sequencing (NGS)

  Genes: FKTN

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2P (DAG1 gene, NGS)

  Code 10780 · Next-generation sequencing (NGS)

  Genes: DAG1

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 5C (FKRP gene, NGS)

  Code 10781 · Next-generation sequencing (NGS)

  Genes: FKRP

  Turnaround time: 33 working days

• Lissencephaly (21-gene panel, NGS)

  Code 11109 · Next-generation sequencing (NGS)

  Genes: ACTB, ACTG1, ARX, ATP6V0A2, CDK5, DCX, FKTN, ISPD and 13 more

  Turnaround time: 33 working days

• Lissencephaly 2, X-linked (ARX gene, NGS)

  Code 11107 · Next-generation sequencing (NGS)

  Genes: ARX

  Turnaround time: 33 working days

• Lissencephaly (PAFAH1B1 gene, NGS)

  Code 11106 · Next-generation sequencing (NGS)

  Genes: PAFAH1B1

  Turnaround time: 33 working days

• Lissencephaly (RELN gene, NGS)

  Code 11105 · Next-generation sequencing (NGS)

  Genes: RELN

  Turnaround time: 33 working days

• Lissencephaly (TMTC3 gene, NGS)

  Code 10184 · Next-generation sequencing (NGS)

  Genes: TMTC3

  Turnaround time: 33 working days

• Lysosomal storage diseases and peroxisomal disorders (84-gene panel, NGS)

  Code 3329 · Next-generation sequencing (NGS)

  Genes: Genes: ACOX1, AGA, AGPS, AGXT, AMACR, AP3B1, ARSA, ARSB, ASAH1, CAT, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DNM1L, FAR1, FUCA1, GAA, G…

  Turnaround time: 33 working days

• Macronodular adrenal hyperplasia (ARMC5 gene, NGS, CNVs)

  Code 3503 · Next-generation sequencing (NGS) + CNVs

  Genes: ARMC5

  Turnaround time: 33 working days

• Malignant hyperthermia (3-gene panel, NGS)

  Code 10023 · Next-generation sequencing (NGS)

  Genes: CACNA1S, RYR1, STAC3

  Turnaround time: 33 working days

• Marfan syndrome (TGFBR2 gene, NGS)

  Code 11116 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Marfan syndrome type 2 (TGFBR2 gene, NGS)

  Code 11114 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Marshall-Smith syndrome (NFIX gene, NGS)

  Code 11118 · Next-generation sequencing (NGS)

  Genes: NFIX

  Turnaround time: 33 working days

• MCCC1 gene testing (sequencing)

  Code 3359 · Next-generation sequencing (NGS)

  Genes: MCCC1

  Turnaround time: 33 working days

• MCCC2 gene testing (sequencing)

  Code 3360 · Next-generation sequencing (NGS)

  Genes: MCCC2

  Turnaround time: 33 working days

• Meckel syndrome (13-gene panel, NGS)

  Code 11121 · Next-generation sequencing (NGS)

  Genes: B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L and 5 more

  Turnaround time: 33 working days

• Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus (AKT3 gene, NGS)

  Code 10070 · Next-generation sequencing (NGS)

  Genes: AKT3

  Turnaround time: 33 working days

• Menkes syndrome (ATP7A gene, NGS)

  Code 11120 · Next-generation sequencing (NGS)

  Genes: ATP7A

  Turnaround time: 33 working days

• Metabolic myopathies and rhabdomyolysis (55-gene panel, NGS)

  Code 10177 · Next-generation sequencing (NGS)

  Genes: ACAD9, ACADL, ACADM, ACADVL, AGL, AHCY, ALDOA, AMPD1 and 47 more

  Turnaround time: 33 working days

• Metachromatic leukodystrophy (ARSA gene, NGS)

  Code 11082 · Next-generation sequencing (NGS)

  Genes: ARSA

  Turnaround time: 33 working days

• Methylmalonic acidemia - homocystinuria type c1431_1433dupAAA, MMACHC gene (MMACHC gene, NGS)

  Code 10114 · Next-generation sequencing (NGS)

  Genes: MMACHC

  Turnaround time: 33 working days

• Methylmalonic acidemia - homocystinuria, type cblC (MMACHC gene, NGS)

  Code 10115 · Next-generation sequencing (NGS)

  Genes: MMACHC

  Turnaround time: 33 working days

• Methylmalonic acidemia (MCEE gene, NGS)

  Code 10112 · Next-generation sequencing (NGS)

  Genes: MCEE

  Turnaround time: 33 working days

• Methylmalonic acidemia (MMAA gene, NGS)

  Code 10111 · Next-generation sequencing (NGS)

  Genes: MMAA

  Turnaround time: 33 working days

• Methylmalonic acidemia (MMACHC gene, NGS)

  Code 10113 · Next-generation sequencing (NGS)

  Genes: MMACHC

  Turnaround time: 33 working days

• Methylmalonic acidemia (MTR gene, NGS)

  Code 10108 · Next-generation sequencing (NGS)

  Genes: MTR

  Turnaround time: 33 working days

• Methylmalonic acidemia, MUT c.322C>T mutation

  Code 10106 · Next-generation sequencing (NGS)

  Genes: MUT

  Turnaround time: 33 working days