Disorders Tested / Incidence Rates:
Signature Precision Panel™ | Prenatal

Angelman

Intellectual disability, speech impairment, ataxia, seizures, unique behavioral profile, dysmorphic features⁹

1 in 12,000⁹

70%

Cri-du-Chat

Intellectual disability, speech delay, cat-like cry, dysmorphic features¹⁰

1 in 50,000¹⁰

99% +

DiGeorge/
Velocardiofacial/
22q11.21 Microdeletion

Variable intellectual disability, heart defects (particularly conotruncal), cleft palate, immunodeficiency, dysmorphic features^2,11

1 in 5,950¹¹

99% +

Jacobsen/
11q Terminal Deletion

Variable intellectual disability, thrombocytopenia, heart defects, short stature, genitalia malformations, recurrent infections, dysmorphic features

1 in 100,000¹²

99% +

Miller-Dieker/
17p13.3 Microdeletions

Variable delay/intellectual disability, lissencephaly and other brain anomalies, growth retardation, seizures, hypotonia, heart defects, urogenital anomalies, dysmorphic features^2,13–15

1 in 57,120^2,11

99% +

Potocki-Lupski/
17p11.2 Microduplication

Intellectual disability, autistic features, language delay, hypotonia and failure to thrive in infancy³⁴

1 in 81,375²

99% +

Prader-Willi

Intellectual disability, infantile hypotonia and failure to thrive, hyperphagia/obesity, small hands/feet, short stature¹⁶

1 in 30,000¹⁶

70%

Retinoblastoma with intellectual disability

Variable intellectual disability, retinoblastoma (often bilateral), variable dysmorphic features^17,18

1 in 107,100^2,11

100%

Smith-Magenis

Intellectual disability, hypotonia, hearing loss, behavioral problems/self-injurious behavior, sleep disturbance, dysmorphic features^19,20

1 in 25,000¹⁹

90%

Sotos

Variable intellectual disability, overgrowth, heart defects, kidney anomalies, seizures, dysmorphic features²¹

1 in 14,000²¹

10%

Williams-Beuren

Intellectual disability, heart defects, endocrine abnormalities, connective tissue abnormalities, characteristic cognitive/behavioral profile, growth deficiency, dysmorphic features²²

1 in 25,000²³

95% +

Wolf-Hirschhorn

Intellectual disability, growth delay, seizures, cleft palate, microcephaly, dysmorphic features²⁴

1 in 50,000²⁴

99% +

1p36 Microdeletion

Intellectual disability, heart defects including cardiomyopathy, hypotonia, seizures, hearing loss, dysmorphic features²⁵

1 in 5,000²⁵

99% +

3q29 Microdeletion

Mild/moderate intellectual disability, autistic features, ataxia, microcephaly, dysmorphic features⁴

1 in 61,200^2,11

99% +

5q35.2–q35.3 Microduplication

Mild/moderate intellectual disability, microcephaly, short stature³⁵

1 in 325,500²

99% +

7q11.23 Microduplication

Intellectual disability, severe speech and language delay, hypotonia, seizures, autistic features, joint laxity, MRI abnormalities, dysmorphic features.^37,38

1 in 52,500^23,36

99% +

9q34 Microdeletion/
Kleefstra

Severe intellectual disability, heart defects, hypotonia, seizures, autistic features, obesity, dysmorphic features

1 in 50,400^2,6

99% +

15q11–q13 Microduplication

Intellectual disability, autistic features, language delay, seizures³⁹

1 in 38,750²

90% +

17p13.3 Microduplications

Variable delay/intellectual disability, microcephaly, growth abnormalities, autistic features, mild brain abnormalities, hypotonia, dysmorphic features^13,40,41

1 in 62,596²

99% +

17q21.31 Microdeletion

Developmental delay, hypotonia, seizures, cryptorchidism, unique behavioral profile, dysmorphic features²⁶

1 in 16,000²⁷

99% +

Total Incidence

1 in 1,126²

Trisomy 13/
Patau syndrome

Intellectual disability, multiple severe congenital anomalies, short lifespan, dysmorphic features^3,28

1 in 12,000³

90% +

Trisomy 18/
Edwards syndrome

Intellectual disability, multiple severe congenital anomalies, short lifespan, dysmorphic features^3,29

1 in 6,000³

90% +

Trisomy 21/
Down syndrome

Intellectual disability, heart defects, gastrointestinal malformations, increased leukemia risk, hearing loss, early onset Alzheimer’s disease, hypothyroidism, dysmorphic features³⁰

1 in 740³⁰

98%

45, X/
Turner syndrome

Short stature, heart defects, kidney malformations, generally normal development^3,31

1 in 5,000³

75% +

47, XXY/
Klinefelter syndrome

Learning disability, gynecomastia, infertility^3,32

1 in 2,000³

90% +

47, XXX/Triple X

Learning disability, tall stature, impaired motor skills^3,32

1 in 2,000³

90% +

47, XYY, and variants

Learning disability, tall stature, impaired social interaction³³

1 in 2,000³

90% +

Total Incidence

1 in 300²