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Showing 20 of 507 tests
PNL151

Kallmann syndrome and other forms of hypogonadotropic hypogonadism with or without anosmia (28 Genes)

aa
Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL152

Leber congenital amaurosis (22 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL153

Left ventricular noncompaction (18 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL154

Leigh syndrome/NARP & their differential diagnosis (79 Genes

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL156

Limb-girdle muscular dystrophy (25 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL157

Lissencephaly (23 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL160

Lysosomal acid lipase deficiency

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
STSMDS

MD-Steriod Sulfatase (Xp22.3)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
Price:
Details
PNL177

Moebius syndrome (2 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL237

RIDDLE syndrome and other radiosensitivities with immunodeficiency [incl. Nijmegen breakage syndrome, ataxia-telengectasia, severe combined immunodeficiency with Cernunnos, severe combined immunodeficiency Athabascan type, Immunodeficiency 26, LIG4 syndro

aa
Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL238

Rubinstein-Taybi syndrome (2 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL268

Tuberous sclerosis (2 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL269

Ullrich muscular dystrophy (3 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL270

Urea cycle and hyperammonemia disorders (44 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL271

Usher syndrome type I, II, III and its differential diagnosis (14 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL272

Vitelliform macular dystrophy, other macular dystrophies and their differential diagnosis, basic (13 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL273

Vitelliform macular dystrophy, other macular dystrophies and their differential diagnosis, extended, incl. cone and cone-rode dystrophies (42 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL274

Vitreoretinopathy and Wagner syndrome (6 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL275

Waardenburg syndrome (7 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details
PNL276

Walker-Warburg syndrome (6 Genes)

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Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Details