Loeys-Dietz syndrome (LDS)

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Tests displaying the status “New York Approved: Yes” are approved or conditionally approved by New York State and do not require an NYS “NPL” exemption. Please note, for carrier/targeted variant tests the approval status depends on whether the gene is in an approved GeneDx single-gene or multi-gene test. In addition, carrier/targeted testing for any gene is automatically approved for relatives of existing GeneDx patients. In all other situations, complete the New York Exemption Form and fax it to the NYS Department of Health to obtain case-by-case permission before shipping the specimen to GeneDx.

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Loeys-Dietz syndrome (LDS) is a systemic connective tissue disorder caused by mutations in the TGFBR1 or TGFBR2 genes (also available as part of the 16 gene Marfan syndrome/TAAD sequencing panel). The skeletal features of Loeys-Dietz syndrome, such as joint laxity, arachnodactyly, pectus deformity, and scoliosis, can overlap with the Marfan phenotype, however most individuals with LDS have features in other organ systems not typical of Marfan syndrome (Loeys 2005). Patients with Loeys-Dietz syndrome can exhibit various craniofacial, neurodevelopmental, skeletal and skin abnormalties, however features specific to LDS include hypertelorism, cleft palate or bifid uvula, and arterial or aortic aneurysms and aterial tortuosity (Van Hemelrijk 2010). The primary risk for early mortality is due to aterial tortuosity and/or aortic root dilatation, which results in an increased risk of aterial or aortic aneurysm (Van Hemelrijk 2010). Since patients with LDS can develop potentially lethal arterial aneurysms that would not be detected by echocardiogram, differentiating between Loeys-Dietz and Marfan syndromes is necessary to determine the appropriate clinical management. Similar to Marfan syndrome, genetic testing is important for identifying presymptomatic family members at risk for developing Loeys-Dietz syndrome.Mutations in the FBN1 gene have also been observed in families with isolated ectopia lentis and MASS syndrome (myopia, mitral valve prolapse, borderline/non-progressive aortic root dilation, skeletal and skin findings). MASS is a connective tissue disorder related to Marfan syndrome but with milder cardiovascular findings.

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Test Info Sheet Test Requisition

Test Details

Genes:

Expand Genes

FBN1

Disorders:

Clinical Utility:

Confirmation of clinical diagnosis in symptomatic patients
Risk assessment of asymptomatic family members of a proband with TAAD
Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders

Ordering

Test Code:

918

Turnaround Time:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

Billing

CPT Codes:

81408x1, 81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

441.9 Aortic aneurysm of unspecified site without mention of rupture Aneurysm Dilatation of aorta, Hyaline necrosis of aorta
441.5 Aortic aneurysm of unspecified site, ruptured Rupture of aorta NOS
759.82 Marfan syndrome
759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
512.8 Other spontaneous pneumothorax Pneumothorax
754.81 Pectus excavatum Congenital funnel chest
737.43 Scoliosis
701.3 Striae atrophicae, Atrophic spots of skin, Atrophoderma maculatum, Atrophy blanche (of Milian), Degenerative colloid atrophy, Senile degenerative atrophy, Striae distensae
379.32 Subluxation of lens
441.00 Unspecified site

* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Info Sheet LOMN HDCT Test Requisition

Test Details

Genes:

Expand Genes

ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LOX, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469

Disorders:

Clinical Utility:

Molecular confirmation of a clinical diagnosis in symptomatic individuals
Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
Genetic counseling and recurrence risk determination

Ordering

Test Code:

J555

Turnaround Time:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

Billing

CPT Codes:

81410x1, 81411x1

New York Approved

Yes

ABN Required

Yes

* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Requisition Test Info Sheet

CREATE A CUSTOM PANEL

Test Details

Disorders:

Clinical Utility:

Confirmation of clinical diagnosis in symptomatic patients
Genetic counseling and risk assessment of asymptomatic family members of a proband with a hereditary cardiovascular condition

Notes:

Customizable Cardiology Panel

Ordering

Test Code:

J779

Turnaround Time:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

Billing

CPT Codes:

Varies by gene

New York Approved

ABN Required

Yes

* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Requisition Test Info Sheet LOMN HDCT

CREATE A CUSTOM PANEL

Test Details

Disorders:

Clinical Utility:

Molecular confirmation of a clinical diagnosis in symptomatic individuals
Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
Genetic counseling and recurrence risk determination

Notes:

Customizable Cardiology Panel

Ordering

Test Code:

J555C

Turnaround Time:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

Billing

CPT Codes:

81410x1, 81411x1

New York Approved

ABN Required

Yes

* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Requisition

Test Details

Genes:

Expand Genes

ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, TNXB, ZNF469

Disorders:

Clinical Utility:

Molecular confirmation of a clinical diagnosis in symptomatic individuals
Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective
tissue disorder
Genetic counseling and recurrence risk determination

Ordering

Test Code:

883RE

Turnaround Time:

4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

Billing

CPT Codes:

81408x2; 81479x1

New York Approved

Yes

ABN Required

Yes

* For price inquiries please email zebras@genedx.com

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Loeys-Dietz syndrome (LDS)

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Test Details

Ordering

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Forms and Documents

Test Details

Ordering

Billing

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

Ordering

Billing

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

Ordering

Billing

Forms and Documents

Test Details

Ordering

Billing